PROGRAM OPERATIONS MANUAL SYSTEMPart DI – Disability InsuranceChapter 230 – Special IssuesSubchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)Transmittal No. 20, 12/13/2018
This transmittal contains updates POMS sections DI 23022.085 through DI 23022.345. Revisions include updates to the content to comply with the Social Security Administration’s plain language initiative and updates to policy guidance.
OMP made the following revisions made to these POMS sections:
Revised the structure of the summary to improve usability and flow of information,
Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”
Revised “Onset and Progression” section heading to “Progression,”
Added information about physical findings that occur with each condition,
Added ICD-9-CM coding information,
Updated the information in the “Suggested MER for Evaluation” section,
Revised “Meets Listing” heading to “Meets,”
Revised “Medical Equals” heading to “Equals,”
Revised “Listing of Impairments” to “the listings,”
Removed last updated information, and
Removed component identifying information.
Additional changes to individual POMS sections are listed below.
Summary of Changes
DI 23022.085 Acute Leukemia
Updated alternate names
Updated condition description
Updated diagnostic testing information
DI 23022.090 Adrenal Cancer
DI 23022.100 Amyotrophic Lateral Sclerosis (ALS)
Removed last updated information,
Removed component identifying information, and
DI 23022.105 Anaplastic Adrenal Cancer – Adult
Deleted alternate names.
DI 23022.110 Astrocytoma – Grade III and IV
Removed component identifying information,
Added “B” to listing 113.13, and
DI 23022.115 Bladder Cancer
Updated alternate names,
Added listing 13.22 to “Meets,” and
Updated “Meets” remarks.
DI 23022.125 Breast Cancer – with distant metastases or recurrent
Updated POMS title,
Deleted 13.10A from “Equals,” and
Deleted “Equals” remarks.
DI 23022.135 Cerebro Oculo Facio Skeletal (COFS) Syndrome
Updated diagnostic testing information.
DI 23022.140 Chronic Myelogenous Leukemia (CML) – Blast Phase
Updated condition description, and
DI 23022.155 Esophageal Cancer
DI 23022.175 Gall Bladder Cancer
DI 23022.180 Gaucher Disease (GD) – Type 2
Updated alternate names, and
DI 23022.185 Glioblastoma (Adult Brain Cancer)
Updated condition description,
DI 23022.200 Inflammatory Breast Cancer
DI 23022.205 Kidney Cancer
Updated diagnostic testing information, and
Updated physical findings.
DI 23022.215 Large Intestine Cancer
Moved definitions of “inoperable” and “unresectable” from “Diagnostic Testing” to “Suggested MER for Evaluation”
Updated treatment information
Deleted listing 13.18B frome “Meets”
Added “Meets” remarks
DI 23022.225 Liver Cancer
DI 23022.230 Mantle Cell Lymphoma (MCL)
DI 23022.240 Niemann-Pick Disease (NPD) – Type A
No additional revisions
DI 23022.245 DI 23022.245 Non-Small Cell Lung Cancer
DI 23022.255 Osteogenesis Imperfecta (OI) – Type II
DI 23022.260 Ovarian Cancer
Added listing 13.23E1b to “Meets”
Updated “Meets” remarks
DI 23022.265 Pancreatic Cancer
DI 23022.270 Peritoneal Mesothelioma
Deleted listing 13.15A from “Meets”
Added listing 13.15A to “Equals”
Deleted listing 13.16 from “Equals”
DI 23022.275 Pleural Mesothelioma
DI 23022.290 Salivary Cancers
Deleted listing 13.14B from “Equals”
Added listing 13.05 to “Equals”
Updated “Equals” remarks
DI 23022.295 Sandhoff Disease
DI 23022.305 Small Cell Cancer of the Ovary
Added listing 13.23F to “Meets”
Deleted listing 13.23E from “Equals”
Deleted “Equals” remarks
DI 23022.310 Small Cell Cancer of the Prostate
Added listing 13.24C to “Meets”
Deleted listing 13.24 from “Equals”
DI 23022.311 Small Cell Cancer of the Thymus
Updated summary heading
Added listing 13.15C to “Meets”
DI 23022.335 Stomach Cancer
DI 23022.340 Anaplastic Thyroid Cancer
DI 23022.345 Ureter Cancer
Added “A or B” to listing in “Meets”
COMPASSIONATE ALLOWANCE INFORMATION
Acute Lymphoblastic or Lymphocytic Leukemia (ALL); Acute Myeloid Leukemia (AML)
Acute Leukemia is a rapidly progressing cancer that starts in the blood-forming tissue such as the bone marrow, and causes large numbers of white blood cells to be produced and enter the blood stream. White blood cells fight infection and are generally classified as lymphocytes or as myelocytes depending on their exact form and function. If the growth of the white blood cells involves the lymphoid line, the disease is classified as acute lymphocytic leukemia; that of the myeloid line is classified as acute myeloid leukemia.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM
Diagnostic testing: The diagnosis of acute leukemia is made by physical examination and history; complete blood count (CBC); peripheral blood smear; bone marrow aspiration and biopsy; cytogenetic analysis; immunophenotyping; and reverse transcription- polymerase chain reaction test (RT-PCR). Bone marrow testing is definitive.
Physical findings: The early symptoms and signs of acute leukemia may be similar to the flu, and include:
Bleeding and clotting problems;
Swelling in the abdomen;
Lumps or spots on the skin; and
Enlarged lymph nodes.
Children and adults with acute leukemia need to be treated immediately. Many times clinical remissions are seen, and in a smaller number of individuals, long-term remission is possible.
Suggested MER for Evaluation:
Clinical history and physical examination that describes the diagnostic features of the impairment.
Initial and follow-up pathology reports.
Results of bone marrow examination, chromosomal analysis, and crytochemical surface marker studies.
Acute leukemia currently meets the criteria in 13.06 A or 113.06 A.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.
Adrenal Carcinoma; Adrenocortical Carcinoma; Adrenocortical Cancer; Cancer of the Adrenal Cortex; Carcinoma of the Adrenal Cortex
Adrenal Cancer is rare and forms in the outer tissue layer of the adrenal gland, the cortex. A tumor of the adrenal cortex may be functioning (producing excess hormones) or non-functioning (not producing hormones). A subtype of adrenal cancer, anaplastic, which shows no cellular differentiation, generally presents as “non-functioning tumor.” Individuals with the hereditary diseases LiFraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex are at risk for adrenal cancer.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: The diagnosis of Adrenal Cancer is made by image guided fine needle biopsy; ultrasound; x-rays; MRI scan; CT scan; PET scan; and adrenal angiography. Laboratory tests including blood and urinalysis to measure levels of adrenal hormones, cortisol levels, aldosterone levels, and androgen or estrogen levels.
Physical findings: Symptoms and physical findings of individuals with Adrenal Cancer may include:
Development of masculine or feminine features, due to hormone increases;
Swelling or weakening of bones or muscles;
High blood pressure;
Fluid retention; and
Electrolyte abnormalities in the body.
Treatment may include surgery, radiation, or chemotherapy. Palliation can be used for inoperable or unresectable tumors, but the prognosis is poor.
Clinical history and examination that describes the diagnostic features of the impairment.
A pathology report noting that the surgical specimen has positive margins, or is inoperable, unresectable, recurrent, or with metastases.
An operative report.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.
“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.
AMYOTROPHIC LATERAL SCLEROSIS (ALS) –
Aran-Duchenne; Gehrig's Disease; Lou Gehrig's Disease; Motor Neuron Disease
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells (neurons) responsible for controlling voluntary muscles.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9 CM
Diagnostic testing: There is no one test or procedure to establish the diagnosis of ALS. The diagnosis of ALS is based on history, neurological findings consistent with the diagnosis of ALS and eletrophysiological and neuroimaging testing to rule out other impairments that may cause similar signs and symptoms. The diagnosis may be supported by electrophysiological studies electromyogram (EMG) and nerve conduction study (NCS) but these tests may be negative or only suggestive of the diagnosis.
Physical findings: In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, ceasing to send messages to muscles. Unable to function, the muscles gradually weaken, waste away, and twitch. Eventually the ability of the brain to start and control voluntary movement is lost. Individuals with ALS lose their strength and the ability to move their arms, legs, and body. When muscles in the diaphragm and chest wall fail, individuals lose the ability to breathe without ventilatory support. The disease does not affect a person's ability to see, smell, taste, hear, or recognize touch, and it does not usually impair a person's thinking or other cognitive abilities. However, several recent studies suggest that a small percentage of patients may experience problems with memory or decision-making, and there is growing evidence that some may even develop a form of dementia. The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others.
Regardless of the part of the body first affected by the disease, muscle weakness and atrophy spread to other parts of the body as the disease progresses. Most individuals with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms.
There is no cure for ALS. However, the FDA has approved two drugs to treat ALS. These are riluzole (Rilutek) and edaravone (Radicava) or (Radicut). Clinical trials with ALS patients showed that riluzole prolongs survival by several months. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. Radicava is an intravenous infusion given by a health care professional. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients. Multidisciplinary teams of health care professionals can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible. Physicians can prescribe medications to help reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm. Drugs also are available to help patients with pain, depression, sleep disturbances, and constipation.
Neurological findings consistent with the diagnosis of ALS.
Results of any electrophysiological and neuroimaging testing.
ANAPLASTIC ADRENAL CANCER - ADULT
Anaplastic Adrenal Cancer is a sub-type of adrenal cancer, which shows virtually no cellular differentiation. It is not associated with overproduction of hormones as is seen in other types of adrenal carcinomas. Abdominal pain is a presenting symptom.
Diagnostic testing: Anaplastic Adrenal Cancer is diagnosed by CT or MRI scans. An adrenal gland biopsy is definitive.
Physical findings: Individuals with Anaplastic Adrenal Cancer generally present with:
Abdominal pain and tenderness;
Abdominal pain, fullness, and tenderness; and
An abdominal mass that is hard and non-movable.
Median survival for anaplastic adrenal cancer is 5 months as compared with a median survival of 40 months for differentiated adrenal cancers.
Radical surgical excision is the treatment for individuals with localized malignancies and remains the only method by which long-term disease-free survival may be achieved.
Imaging studies of CT scan or MRI will suggest a diagnosis.
An adrenal gland biopsy is definitive.
ASTROCYTOMA - GRADE III and IV
Astrocytoma Grade III; Anaplastic Astrocytoma; Anaplastic Malignant Astrocytoma; Astrocytoma Grade IV; Mixed Glioblastoma Sarcoma; Gliosarcoma Astrocytoma Grade IV; Giant Cell Glioblastoma; Anaplastic Astrocytoma; Anaplastic Oligoastrocytoma; Anaplastic Oligodendroglioma; Anaplastic Pleomorphic Xanthoastrocytoma
Astrocytoma is a tumor that begins in the brain or spinal cord in small, star-shaped cells called astrocytes. These tumors are graded as defined by the World Health Organization (WHO) and the grading is based on microscopic analysis of levels of mitotic activity and nuclear atypia. Grades III and IV represent the most aggressive forms of the disease. Grade III astrocytomas include anaplastic astrocytomas and sometimes the less malignant of the glioblastoma multiforme group. Grade IV Astrocytomas are highly malignant and include only glioblastoma types. Cerebellar astrocytomas start in the cerebellum, which is located at the lower back of the brain. The cerebellum is the part of the brain that controls movement, balance, and posture. These tumors affect both adults and children. About 15-25% of all childhood brain tumors are cerebellar astrocytomas. Although cancer is rare in children, brain tumors are the most common type of childhood cancer other than leukemia and lymphoma. The symptoms of astrocytoma vary and often depend on an individual's age and where the tumor is located.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM
Diagnostic testing: Diagnostic testing for Astrocytoma includes a neurologic examination, and radiologic imaging such as a CT scan and/or MRI (magnetic resonance imaging). A biopsy is performed, either before surgery by a needle biopsy or at the time of surgical resection.
Physical findings: Symptoms and physical findings of Astrocytoma include:
Loss of balance;
Morning headache or headache that goes away after vomiting;
Nausea and vomiting;
Unusual sleepiness or change in energy level;
Change in personality or behavior;
Sensory loss; and
Astrocytomas tend to grow and become more malignant over time. Brain stem gliomas have relatively poor prognoses. The overall median survival is between 44 and 74 weeks.
Treatment depends on the location of the tumor and its progression. Standard treatment is surgery followed by radiation therapy. If surgery is not an option, radiation therapy is given. Chemotherapy is sometimes given during or after radiation therapy.
A pathology report.
If a pathology report is unavailable, a surgical report or all radiological studies especially the MRI and CT scans may be substituted.
13.13 A 2
COMPASSIONATE ALLOWANCE INFORMATION
Invasive Bladder Cancer; Bladder Carcinoma; Invasive Bladder Carcinoma; Transitional Cell Carcinoma of the Bladder; Urothelial Cancer; Squamous Cell Carcinoma of the Bladder; Squamous Cell Cancer of the Bladder; Adenocarcinoma of the Bladder; Urinary Cancer; Urinary Carcinoma
Bladder Cancer is a disease in which malignant cells form in the tissues of the bladder. Most bladder cancers are transitional cell carcinomas. Other types include squamous cell carcinoma and adenocarcinoma. The cells that form carcinoma develop in the inner lining of the bladder, maybe as a result of chronic irritation and inflammation. Cancer that begins in the transitional cells may spread through the lining of the bladder and invade the muscle wall of the bladder or spread to nearby organs and lymph nodes. This is called Invasive Bladder Cancer.
Diagnostic testing: Bladder Cancer is diagnosed by physical exam and history; CT scan, urinalysis, intravenous pyelogram (IVP), cystoscopy (examination of urinary tract), biopsy, and/or urine cytology (microscopic study of cells). The following may also be used to determine if the cancer has spread: MRI, chest x-ray, and/or bone scan.
Physical findings: Individuals with Bladder Cancer may present with irritative bladder symptoms such as urinary frequency or urgency and hematuria. Flank pelvic or bony pain may be present.
If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy can be utilized for palliation, but the prognosis is poor.
A pathology report and an operative report stating that the tumor is inoperable or unresectable are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
Breast Carcinoma (Stage IV); Metastatic Breast Carcinoma; Metastatic Breast Cancer; Ductal Carcinoma of the Breast (Stage IV); Metastatic Ductal Carcinoma; Metastatic Ductal Cancer; Lobular Carcinoma of the Breast Stage (IV); Metastatic Lobular Cancer
Diagnostic testing: The diagnosis of Breast Cancer is made by clinical breast examination and imaging tests, such as mammogram, ultrasound, and MRI. A needle or incisional biopsy confirms the diagnosis.
Physical findings: Individuals with listing level severity of Breast Cancer may present with:
A breast lump or changes in breast size or shape;
Skin dimpling or skin changes (e.g. Thickening, swelling or redness);
Nipple inversion or other nipple abnormalities (e.g. ulceration, retraction, or spontaneous bloody discharge);
Axillary lump or contour changes;
Dilated veins; or
Signs of metastatic spread may include:
Localizing neurologic signs;
Altered cognitive function or headache.
The 5-year survival rate for breast cancers that have spread to other parts of the body tend to have a poor prognosis. The 5-year survival rate for individuals with stage IV breast cancer when appropriately treated is about 20%.
Treatment may include surgery, chemotherapy, radiation, and hormone therapy.
Summaries of hospitalization and medical reports if we cannot get a pathology report or operative note. These summaries should provide us with details of the findings at surgery and, whenever appropriate, the pathological findings.
In place of an operative note, a pathology report indicating positive margins may be substituted.)
CEREBRO OCULO FACIO SKELETAL (COFS)
Cockayne Syndrome-Classical Type I; Cockayne Syndrome-Congenital Type II; Pena Shokeir Syndrome Type II
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9- CM
Diagnostic testing: COFS is usually diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little.
Genetic testing showing the ERCC6, XPG, or XPD gene mutations, are associated with the syndrome but are not considered alone as diagnostic or confirmatory of COFS syndrome.
Physical findings: Physical examination shows:
Flexion contractures (fixed bending of the elbows and knees);
Hunched back (kyphosis);
Bending of the fingers (camptodactyly);
Craniofacial and skeletal abnormalities;
Severely reduced muscle tone;
Impaired reflexes and porous bones (osteoporosis).
Other findings may include:
Large, low-set ears;
Microcephaly (abnormal smallness of the head);
Micrognathia (abnormal smallness of the jaws);
Involuntary eye movements; and
COFS is a fatal disease. Death usually occurs by 5 years of age.
Clinical history and examination and examination that describes the diagnostic features of the impairment.
CHRONIC MYELOGENOUS LEUKEMIA (CML) - BLAST PHASE
Chronic Myeloid Leukemia (Blast /Accelerated phase); CML (Blast/ Accelerated phase phase); Chronic Granulocytic Leukemia (Blast Accelerated phase)
Blast phase is the final phase in the evolution of CML. It behaves like acute leukemia with rapid progression and short survival.
Results of a Complete Blood Count (CBC) exam and bone marrow examinations.
If necessary, cytogenetic (chromosome) studies and molecular analyses can provide additional confirmative information.
Adenocarcinoma of the Esophagus; Squamous cell carcinoma of the Esophagus
Esophageal Cancer originates from the lining of the esophagus and presents as either squamous cell carcinoma (cancer that begins in flat cells lining the esophagus) or adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). In general, squamous cell carcinoma is usually found in the upper esophagus while adenocarcinoma is located in the lower part of the esophagus and may be related to reflux disease and a condition termed Barrett's esophagus. Esophageal cancer may spread throughout the esophagus and may also extend beyond the edges of the primary tumor (distant metastases). Esophageal Cancer may spread throughout the esophagus and may extend beyond the edges of the primary tumor (distant metastases).
DESCRIPTION DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM
Diagnostic testing: Definitive diagnosis is by esophagoscopy with visualization of the cancer and biopsy. Additional testing includes barium swallow (esophagram); CT scan of the chest, abdomen, and pelvis; PET scan; and bone scan.
Physical findings: Individuals with esophageal cancer may present with:
Dysphagia (difficulty swallowing);
Epigastric or retrosternal area pain; and
The prognosis for esophageal cancer is not good regardless of the treatment employed. When esophageal cancer is found very early, there is a better chance of recovery. Esophageal cancer is often in an advanced stage when it is diagnosed. At later stages, esophageal cancer can be treated but rarely can be cured.
Historically, treatment of esophageal cancer has been surgery. Recent multimodality therapy with radiation, chemotherapy and surgery has begun to play a major role in treatment.
Pathology report from esophagoscopy.
Cholangiocarcinoma; Klatskin Tumor; Biliary Duct Cancer
Gallbladder Cancer includes cancers that are formed in tissues of the gallbladder and those originating in the bile ducts of the liver (biliary system). Gallbladder Cancer is a disease in which malignant (cancer) cells form in the innermost layer of the tissue and tissue and then spread through the outer layers. Bile Duct Cancer, also called cholangiocarcinoma, is a cancer that forms in a bile duct. Bile Duct Cancer may be found inside the liver (intrahepatic) or more commonly outside the liver (extrahepatic). Klatskin tumor is a type of cholangiocarcinoma that develops where the right and left bile ducts meet, as they exit the liver forming the common hepatic duct. Risk factors for Gallbladder Cancer are greatest for females and Native Americans.
Diagnostic testing: Gallbladder Cancer is diagnosed with ultrasound exam; blood tests including liver function tests, carcinoembryonic antigen (CEA) assay, and CA 19-9 assay; CT scan; chest x-ray; MRI; MRA; PTC; endoscopy; and biopsy and laparoscopy.
Physical findings: Individuals with gallbladder cancer may present with:
Palpable mass in the right upper quadrant;
Left supraclavicular adenopathy, and
Unexplained weight loss.
Other symptoms may include:
Abdominal pain; Fever, nausea and vomiting;
Cholangiocarcinoma generally causes progressive liver failure. Gallbladder Cancer can invade the liver or it can disseminate into lymph nodes or can spread as intra-peritoneal metastases.
Imaging (e.g. x-ray, MRI, MRA, CT scans)
Results of ultrasound testing
Results of blood chemistry testing
GAUCHER DISEASE (GD) - Type 2
Gaucher Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Gaucher Syndrome Type 2
Gaucher Disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. In GD Type 2, liver and spleen enlargement are apparent by 3 months of age. Children have extensive and progressive brain damage and usually die by 2 years of age. All individuals with GD exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases.
Diagnostic testing: The diagnosis of GD relies on demonstration of deficient enzyme activity in peripheral blood leukocytes or other nucleated cells. Identification of two disease-causing alleles in GBA, the only gene known to be associated with GD, provides additional confirmation of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing using sequence analysis identifies mutations in the majority of affected individuals.
Blood chemistry testing demonstrating a deficit in the enzymatic activity of glucocerebrosidase is definitive genetic testing for mutations in the GBA gene.
Physical findings: Individuals with this impairment may have:
Delayed growth and physical development;
Eye movement disorders;
Poor ability to suck and swallow;
Enlarged liver and spleen;
Respiratory difficulties; and
The prognosis for children with GD Type 2 with onset before age two years is limited psychomotor development and a rapidly progressive course with death by age two to four years.
There is no effective treatment for the severe brain damage that may occur in children with GD Type 2.
Enzyme assay level of glucocerebrosidase activity of less than 15%, physical findings of hepatosplenomegaly, and evidence of progressive neurodevelopmental delay.
Results of blood chemistry testing.
Genetic testing for mutations in the GBA gene.
GLIOBLASTOMA ( ADULT BRAIN CANCER )
Glioblastoma is a fast-growing type of central nervous system cancer that forms from glial (supportive) tissue of the brain and spinal cord and has cells that look very different from normal cells. It spreads aggressively throughout the brain tissue and is the most malignant of the primary brain cancers. In consequence, these cancers are difficult to treat and often recur after initial therapy. Glioblastoma most often occurs in adults between the ages of 45 and 70 years and affects the brain more often than the spinal cord.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9–CM CODING
Diagnostic testing: Diagnosis is based on patient history, neurological examination and diagnostic procedures. The only definitive test that can provide a diagnosis of glioblastoma is a biopsy of the cancer. Testing to confirm diagnosis of glioblastoma includes neuroimaging (CT and MRI) to provide information about the location, size and shape of the cancer.
Physical findings: Individuals with this impairment may present with:
Slowly progressive neurologic deficits;
Motor weakness; Increased intracranial pressure including headaches, nausea, and vomiting, and cognitive impairments;
Changes in mood and personality; and
Glioblastoma is highly aggressive, infiltrating, and responds poorly to all currently available treatments. The prognosis is grim, as most patients die within 2 years and few survive longer than three years.
Treatment of glioblastoma may include the following: surgery, radiation and/or chemotherapy.
Pathology report of the cancer biopsy or surgical specimen is the critical information necessary for disability evaluation.
Results of neuroimaging (e.g. CT scan, MRI scan).
INFLAMMATORY BREAST CANCER
Diagnostic testing: Imaging and staging tests including a diagnostic mammogram and an ultrasound of the breast and regional lymph nodes; PET scan, CT, or bone scan to determine extent of metastases. The biopsy is obtained and generally shows pathologic dermal lymphatic invasion.
Physical findings: Individuals with this impairment may present with a rapid onset of erythema (redness), edema (swelling), and a peau d‘orange appearance (ridged or pitted skin); there also may be a heaviness with increase in breast size, abnormal breast warmth, with or without a lump that can be felt. Swollen lymph nodes may be present under the arm or above the collarbone, but this may also be present in infection or injury.
IBC is more likely to have metastasized (spread to other areas of the body) at the time of diagnosis than non-IBC cases. As a result of this and the general aggressive nature of the disease, the 5-year survival rate for patients with IBC is between 25 and 50%, which is significantly lower than the survival rate for patients with non-IBC breast cancer.
Treatment for IBC consists of chemotherapy, targeted therapy, surgery, radiation therapy, and hormonal therapy. Individuals may also receive supportive care to help manage the side effects of the cancer and its treatment. Chemotherapy is generally the first treatment for individuals with IBC; and when given prior to surgery, is called neoadjuvant therapy. The use of this neoadjuvant treatment has dramatically improved response rate, although long-term overall survival is still worse as compared with other forms of breast cancer. After chemotherapy, individuals may undergo surgery and radiation therapy to the chest wall. Both radiation and surgery are local treatments that affect only cells in the tumor and the immediately surrounding area. After initial systemic and local treatment, patients with IBC may receive additional systemic treatments to reduce the risk of recurrence.
Clinical documentation of the characteristic changes of the skin as described above and a pathology report with a diagnosis of malignancy.
Results of imaging tests (e.g. Diagnostic mammogram, PET scan, CT scan, or bone scans).
Kidney Carcinoma; Renal Cell Cancer; RCC; Renal Cell Carcinoma; Wilms Tumor; Renal Pelvis Carcinoma; Renal Adenocarcinoma; Clear Cell Sarcoma of the Kidney; Rhabdoid Tumor of the Kidney; Neuroepithelial Tumor of the Kidney; Diffuse Hyperplastic Perilobar Nephroblastomatosis; Transitional Cell Carcinoma; Urothelial Carcinoma; Hypernephroma
Kidney Cancer is cancer that forms in tissues of the kidneys (renal cells). Kidney Cancer develops most often in people over 40, but no one knows the exact causes of this disease. Smoking and misuse of certain pain medicines including over-the-counter pain medicines for a long time can affect the risk of developing renal cell cancer. Also, certain genetic conditions, such as von Hippel-Lindau disease or hereditary papillary renal cell carcinoma put a person at risk for this disease. These genetic variations account for a small number of cases, approximately 5%. Clear Cell Sarcoma of the Kidney is a rare type of kidney cancer, in which the inside of the cells look clear when viewed under a microscope. Clear Cell Sarcoma can spread from the kidney to other organs, most commonly the bone, but also the lungs, brain, and soft tissues of the body.
Diagnostic Testing: Diagnostic testing may include physical exam and history, blood chemistry studies, urinalysis, liver function tests, intravenous pyelogram (IVP), ultrasound exam, CT scan, MRI, and biopsy.
Physical findings: There may be no symptoms of Kidney Cancer in the early stages. Symptoms may appear as the tumor grows. Symptoms include:
Blood in the urine;
A lump in the abdomen;
Pain in the side that does not go away;
Loss of appetite;
Weight loss; and
ICD-9: 189.0,189.1, 233.9
Generally, if the disease is limited and surgery removes the disease, 5-year survival is good. However, when the disease is inoperable, unresectable, or metastatic, prognosis is poor.
Standard treatment for Kidney Cancer includes surgery to remove all or part of the kidney, radiation therapy, chemotherapy, biologic therapy, and targeted therapy.
An individual can live with part of one working kidney, but if both kidneys are removed or not working, the person will need dialysis (a procedure to clean the blood using a machine outside of the body) or a kidney transplant (replacement with a healthy donated kidney). A kidney transplant may be done when the disease is in the kidney only and a donated kidney can be found.
Targeted therapy uses drugs or other substances that can find and attack specific cancer cells without harming normal cells. Antiangiogenic agents are a type of targeted therapy that may be used to treat advanced Kidney Cancer. They keep blood vessels from forming in a tumor, causing the tumor to starve and stop growing or to shrink.
Clinical note from a surgeon that the cancer is inoperable.
Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.
Suggested Listings for Evaluation:
LARGE INTESTINE CANCER
Colon Cancer; Colon Carcinoma; Colorectal Cancer; Colorectal Carcinoma; Rectal Cancer; Rectal Carcinoma; Large Bowel Cancer; Large Bowel Carcinoma; Large Intestine Adenocarinoma; Colon Adenocarcinoma
Large Intestine Cancer forms in the tissues of the colon. Most colon cancers are adenocarcinomas. When Large Intestine Cancer spreads outside the colon or rectum, cancer cells are often found in nearby lymph nodes. If cancer cells have reached these nodes, they may also have spread to other lymph nodes or other organs. Large Intestine Cancer cells most often spread to the liver.
Large Intestine Cancer is more likely to occur as people age. More than 90% of diagnoses are made after age 50 and the average age at diagnosis is 72.
Diagnostic testing: The following may be used to diagnose the disease: fecal occult blood test (FOBT), sigmoidoscopy, colonoscopy, double-contrast barium enema, or digital rectal exam.
The following tests and procedures may be used to determine if the Large Intestine Adenocarcinoma has spread:
CT scan, lymph node biopsy;
Carcinoembryonic antigen (CEA) assay;
Physical findings: Some signs and symptoms of large intestine cancer include:
Changes in bowel habits, including diarrhea or constipation or a change in consistency of stool that lasts longer than four weeks;
Rectal bleeding or blood in stool;
Persistent abdominal discomfort, such as cramps, gas, or pain;
A feeling that your bowel doesn’t empty completely;
Weakness or fatigue; and
Many people experience no symptoms in the early stages of the disease. When symptoms appear, they will likely vary, depending on the cancer’s size and location in the large intestine.
ICD-9: 153.9, 154.8, 230.3, 230.4, 795.81
Large Intestine Cancer is the second leading cause of death from cancer in the United States. Inoperable or unresectable cancer of the Large Intestine may progress locally and cause intestinal obstruction, uncontrolled GI bleeding, or severe pain from invasion into the sacral nerve plexus.
Surgical resection is the mainstay of treatment, and may be followed by chemotherapy. Approximately 50% of patients are cured with surgery.
A pathology report and an operative report are the preferred methods for documentation.
Hepatocellular (Liver) cancer; Intrahepatic Bile Duct Cancer; Liver Cancer; Hepatocellular Carcinoma
Two of the most common forms of Liver Cancer are Hepatocellular Carcinoma and Intrahepatic Bile
Duct Cancer. Hepatocellular Carcinoma is a type of adenocarcinoma that forms in the tissues of the liver. The following are possible risk factors for Hepatocellular Carcinoma: having hepatitis B or hepatitis C; having a close relative with both hepatitis and liver cancer; having alcoholic cirrhosis; hemochromatosis; and eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts that have not been stored properly). Intrahepatic Bile Duct Cancer arises within the liver bile ducts and may be multifocal.
Diagnostic testing: Diagnosis of Hepatocellular Carcinoma includes a clinical examination, which includes a medical history and a thorough physical examination. Many blood tests may be used to check for liver problems. For example, one blood test detects alpha-fetoprotein (AFP). High AFP levels could be a sign of liver cancer. Several tests may be performed including CT scan, ultrasound test, MRI, angiogram, and biopsy.
Physical findings: Hepatocellular Carcinoma is sometimes called a “silent disease” because in an early stage it often does not cause symptoms. But, as the cancer grows, symptoms may include:
Pain in the upper abdomen on the right side;
Pain that may extend to the back and shoulder;
Swollen abdomen (bloating);
Loss of appetite and feelings of fullness;
Weakness or feeling very tired;
Yellow skin and eyes, and dark urine from jaundice; and
I CD-9: 155.0, 155.1, 230.8
Hepatocellular Carcinoma is rarely discovered early and often does not respond to current treatments-thus, the prognosis is often poor. For patients with advanced disease, care is focused on keeping the patient as comfortable as possible. Palliative therapy aims to improve the quality of a person's life by controlling pain and other problems caused by the disease.
Hepatocellular Carcinoma can be cured only when it is found at an early stage (before it has spread) and only if the patient is healthy enough to have surgery. However, treatments other than surgery may be able to control the disease and help patients live longer and feel better. The choice of treatment depends on the condition of the liver; the number, size, and location of tumors; and whether the cancer has spread outside the liver. Options include surgery, radiation therapy, chemotherapy, percutaneous ethanol injections, and hepatic arterial infusions. For a few patients, liver transplantation may be an option.
A pathology report stating that hepatocellular carcinoma is present in a biopsy specimen, or
A MRI or CT scan showing liver abnormalities compatible with hepatocellular carcinoma along with elevated alpha-feto-protein meeting the requirements under the diagnostic testing above.
MANTLE CELL LYMPHOMA (MCL)
Mantle Cell Lymphoma (MCL) is an aggressive (fast-growing) type of B-cell non-Hodgkin's lymphoma. Non-Hodgkin's lymphomas are related malignancies (cancers) that affect the lymphatic system. It is marked by small to medium-size cancer cells that may be in the lymph nodes, spleen, bone marrow, blood, and gastrointestinal system. MCL is a B-cell lymphoma that develops from malignant B-lymphocytes within a region of the lymph node known as the "mantle zone." MCL results from errors in the production of a lymphocyte or transformation of a lymphocyte into a malignant cell. Abnormal, uncontrolled growth and multiplication (proliferation) of malignant lymphocytes may lead to enlargement of a specific lymph node region or regions; involvement of other lymphatic tissues, such as the spleen and bone marrow; and spread to other bodily tissues and organs, potentially resulting in life-threatening complications. The specific symptoms and physical findings may vary from case to case, depending upon the extent and region(s) of involvement and other factors. MCL primarily affects men over the age of 50 years. Many affected individuals have widespread disease at diagnosis, with involved regions often including multiple lymph nodes, the spleen, and, potentially, the bone marrow, the liver, and/or regions of the digestive (gastrointestinal) tract.
Diagnostic testing: MCL diagnosis is obtained by pathologic review of a lymph node biopsy or bone marrow specimen. This usually includes flow cytometry testing and chromosomal analysis, which show CD5-positive cells, cyclin D1 protein over expression, and translocation of chromosomes 11 and 14.
Physical findings: Some physical findings with MCL may include:
Loss of appetite and weight;
Nausea or vomiting;
Swollen lymph nodes in the neck, armpits, or groin;
A sense of fullness or discomfort from enlarged tonsils, liver or spleen.
ICD-9: 200.3, 200.4, 200.40, 200.41, 200.42, 200.43, 200.44, 200.45, 200.46, 200.47, 200.48, 202.8
Chemotherapy and radiation therapy are used for palliation with variable degrees of success.
The diagnosis of MCL is usually based on the pathology report from a lymph node or bone marrow specimen.
NIEMANN-PICK DISEASE (NPD) - Type A
Acute Neuronopathic form-type A-classic infantile form; Niemann Disease; Sphingomyelin Lipidosis; Sphingomyelinase Deficiency
Niemann-Pick Disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. NPD Type A, neurodegenerative form, occurs in infants. It is characterized by jaundice, an enlarged liver; and profound brain damage. In NPD Type A, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.
Diagnostic testing: NPD Type A is diagnosed by measuring the amount of acid sphingomyelinase (ASM) in white blood cells. The test can be done using a blood or bone marrow sample. Sphingomyelinase assays (analysis) can also be used. DNA tests can be done to diagnose carriers. Prenatal testing is available when a mutation is known to exist in the family.
Physical findings: Symptoms may include:
Lack of muscle coordination;
Loss of muscle tone;
Increased sensitivity to touch;
Feeding and swallowing difficulties;
Slurred speech; and
An enlarged liver and spleen.
There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina.
ICD-9: 272.7, 330.2
There is currently no effective treatment for persons with NPD Type A. Medicines are available to control or relieve many symptoms, such as cataplexy and seizures.
ASM activity level in blood or bone marrow white blood cells.
Physical findings of hepatosplenomegaly (enlarged liver and spleen).
Evidence of neurodevelopmental regression and progressive delay.
NON-SMALL CELL LUNG CANCER
Lung Cancer forms in tissues of the lung, usually in the cells lining the air passages. The two main types are Small Cell Lung Cancer and Non-Small Cell Lung Cancer. Diagnosis of the type of cancer is based on microscopic examination. About 87% of lung cancers are Non-Small Cell Lung Cancers. This type spreads more slowly than Small Cell Lung Cancer. The three types of Non-Small Cell Lung Cancer are Squamous Cell Carcinoma, Large Cell Carcinoma, and Adenocarcinoma. Adenocarcinoma has a subdivision of bronchioalveolar carcinoma, which is also known as lepidic adenocarcinoma
Diagnostic testing: The following may be used to diagnose the extent of disease: physical exam history, chest x-ray, CT scan, PET scan, bronchoscopy, thorascoscopy, thoracotomy, or mediastinoscopy. The diagnosis is made from the pathological evaluation of a tumor biopsy. Tumor can be obtained for pathology by needle biopsy or surgical excision.
Physical findings: Early lung cancer often does not cause symptoms. As the cancer progresses, common symptoms may include:
Persistent or worsening cough;
Constant chest pain;
Coughing up blood;
A hoarse voice;
Frequent lung infections;
Unintentional weight loss.
ICD-9: 162.3, 162.9, 231.2, 512.82, 795.81
Diagnosis in the early stages provides the greatest chance for survival; however, symptoms of Non-Small Cell Lung Cancer usually do not appear until the disease is in an advanced stage. Treatment for Stage IV will not cure the cancer, but can reduce symptoms and extend and improve the quality of life.
The 5-year survival rate for Non-Small Cell Lung Cancer is 15%. Late stage Non-Small Cell Lung Cancer has a 5-year survival rate of less than 5%. Most Non-Small Cell Lung Cancer patients die within a year of diagnosis.
Treatment of Stage IIIB Non-Small Cell Lung Cancer may include surgery, external radiation therapy, chemotherapy, or a combination of all three. Treatment of Stage IV Non-Small Cell Lung Cancer may include internal radiation therapy, or external radiation as palliative therapy to relieve pain, symptoms, and improve quality of life.
OSTEOGENESIS IMPERFECTA (OI) - Type
Osteogenesis Imperfecta Congenita (OIC); Vrolik Disease (OI Type 2A)
Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
There are at least eight recognized forms of OI, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of OI and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of OI.
Diagnostic testing: Ultrasound can often detect severe cases of OI during pregnancy. The severe form of OI Type II can be seen on ultrasound when the fetus is as young as 16 weeks. Genetic testing may be able to identify the mutation.
Physical findings: More severe forms of OI cause frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include:
Respiratory problems; and
A disorder of tooth development called dentinogenesis imperfecta.
The most severe forms of OI, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.
OI Type II infants have life-threatening problems with breathing and often die shortly after birth.
Genetic testing for mutations in the COL1A1 and COL1A2 genes responsible for collagen formation, or skin biopsy analysis.
Physical and imaging findings consistent with OI Type II diagnosis.
OVARIAN CANCER (excluding Germ Cell)
Ovarian Epithelial Carcinoma; Ovarian Epithelial Cancer; Ovarian Carcinoma
Ovarian Cancer forms in tissues of the ovary. Most ovarian cancers are either ovarian epithelial carcinomas or malignant germ cell tumors is a disease in which malignant cells form in the tissue covering the ovary.
Those with a family history of Ovarian Cancer are at an increased risk of developing it. Some ovarian cancers are caused by inherited gene mutation. Hereditary ovarian cancers make up approximately 5% to 10% of all cases of Ovarian Cancer. Tests that can detect mutated genes are sometimes performed for members of families with a high risk of cancer.
Diagnostic testing: The following may be used to diagnose the extent of disease: blood tests, urinalysis, GI series, exploratory laparoscopy, ultrasound, abdominal CT scan, and/or MRI of the abdomen. Diagnosis requires pathological evaluation of biopsy specimen or cytology specimen.
Physical findings: Common symptoms of Ovarian Cancer include:
Changes in appetite;
Pressure in pelvis or lower back;
A frequent or urgent need to urinate;
Changes in bowel movements;
Increased abdominal girth;
Tiredness or low energy; and
Changes in menstruation.
ICD-9: 233.39, 795.82
The prognosisTreatment may include surgery, radiation, and/or chemotherapy.
Clinical note from a surgeon that the cancer is inoperable or unresectable.
Exocrine Cancer; Pancreatic Adenocarcinoma; Pancreatic Carcinoma
Pancreatic Cancer occurs when cells of the pancreas grow abnormally to form a tumor. The malignant (cancer) cells form in the tissues of the pancreas. Most pancreatic cancers begin in the ducts that carry pancreatic juices. The digestive juices are produced by exocrine pancreas cells and the hormones are produced by endocrine pancreas cells. About 95% of pancreatic cancers begin in exocrine cells.
Diagnostic testing: To determine extent of disease the following may be done: physical exam, lab tests including blood, urine, and stool samples to check for bilirubin and other substances, CT scan, MRI scan, Ultrasonography: Transabdominal ultrasound or Endoscopic ultrasound (EUS), endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography (PTC), and laparoscopy. Diagnosis is made on pathological review of a biopsy specimen.
Physical findings: Symptoms of this disease may include:
Pain in the upper abdomen or upper back;
Yellow skin and eyes, and dark urine from jaundice;
Nausea and vomiting, and
ICD-9: 157.3, V18.11, V84.81
Although rare, Pancreatic Cancer can be cured only when it is found at an early stage, before it has spread. However, other treatments may be able to control the disease and help patients live longer and feel better.
Pancreatic Cancer may have several treatment options. Depending on the type and stage, before it has spread. However, other treatments may be able to control the disease and help patients and their doctors choose palliative therapy.
Malignant Mesothelioma of the Peritoneum
Peritoneal Mesothelioma is a rare cancer of the abdominal lining with about 600 cases per year in the United States. It is usually associated with asbestos exposure and regarded as universally fatal. Exposure to asbestos fibers can cause mesothelioma even years later. Working with asbestos or living with someone who works with asbestos is the major risk factor for mesothelioma.
DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: Diagnosing Peritoneal Mesothelioma is often difficult because the symptoms are often associated with other conditions. Diagnostic testing includes a review of the patient's medical history and a complete physical examination, including x-rays of the abdomen. Diagnostic imaging by CT scan and MRI suggests a diagnosis, but definitive diagnosis is via tissue sampling by CT-directed biopsy or peritoneoscopy.
Physical findings: Symptoms of Peritoneal Mesothelioma include:
Abdominal pain and swelling due to a buildup of fluid in the abdomen,
Blood clotting abnormalities;
ICD-9: 158.8, 159, 159.8, 501, 789.51
Delayed diagnosis of mesothelioma worsens its prognosis. In general, the prognosis of mesothelioma is poor and most studies report median survival of less than a year.
Standard treatment for all but localized mesothelioma is generally not curative. However, radical resection is associated with a better prognosis and should be attempted when possible. Chemotherapy can be administered systemically or directly into the abdomen and is helpful as palliative treatment.
CT-directed biopsy or peritoneoscopy.
Pathology report confirming diagnosis of Peritoneal Mesothelioma.
Malignant Mesothelioma of the Pleura
Pleural Mesothelioma is a rare type of cancer where malignant cells are found in the pleura (the thin layer of tissue that lines the chest cavity and covers the lungs). Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma. Although reported incidence rates have increased in the past 20 years, pleural mesothelioma is still a relatively rare cancer. About 2,000 new cases of pleural mesothelioma are diagnosed in the United States each year. Pleural mesothelioma occurs more often in men than in women and risk increases with age, but this disease can appear in either men or women at any age. Working with asbestos is the major risk factor for mesothelioma. A history of asbestos exposure at work is reported in about 70% to 80% of all cases. However, mesothelioma has been reported in some individuals without any known exposure to asbestos.
Diagnostic testing: Diagnosing Pleural Mesothelioma is often difficult, because the symptoms are similar to those of a number of other conditions. Diagnosis begins with a review of the patient's medical history, including any history of asbestos exposure. A complete physical examination may be performed, including x-rays of the chest or abdomen and lung functioning tests. A CT scan or an MRI may also be useful. A biopsy is needed to confirm a diagnosis of pleural mesothelioma. If the cancer is in the chest, the doctor may perform a thoracoscopy. In this procedure, the doctor makes a small cut through the chest wall and puts a thin, lighted tube called a thoracoscope into the chest between two ribs. Thoracoscopy allows the doctor to look inside the chest and obtain tissue samples. If the procedure does not yield enough tissue, more extensive diagnostic surgery may be necessary.
Physical findings: Symptoms of mesothelioma may not appear until 30 to 50 years after exposure to asbestos. Shortness of breath and pain in the chest due to an accumulation of fluid in the pleura are often symptoms of Pleural Mesothelioma.
ICD-9: 501, 511.8, 511.81
Advanced malignant mesothelioma includes stages II, III, and IV. In stage II, cancer is found in the lining of the chest wall and the lymph nodes on the same side of the chest. Cancer may also be found in the lining of the lung, the lining of the diaphragm, or the lining of the sac that covers the heart on the same side of the chest. In stage III, cancer has spread to any of the following areas: the chest wall, the mediastinum, the heart, beyond the diaphragm and the peritoneum. Cancer may have also spread to lymph nodes on the other side of the chest or outside the chest. In stage IV, cancer has spread to distant organs or tissues. The prognosis is poor with a limited survival time of less than 2 years.
Treatment for Pleural Mesothelioma depends on the location of the cancer, the size of the tumor, the amount of fluid in the chest, the stage of the disease, and the individual's age and general health. Standard treatment options include surgery, radiation therapy, and chemotherapy. Surgery is associated with a median survival time of 15-24 months; chemotherapy has an average response rate of 10-20%.
Pathology report confirming diagnosis
Salivary Glands Cancer; Anaplastic Small Cell Carcinoma of the Salivary Glands; Adenosquamous Carcinoma of the Salivary Glands; Anaplastic Small Cell Carcinoma; Adenosquamos Carcinoma
Salivary Cancers form in tissues of salivary glands in the floor of the mouth and throughout the oropharynx, the parotid glands, and the submandibular glands. Cancer of the salivary glands commonly presents with one of several different histologies: mucoepidermoid, adenoid cystic, acinic cell, malignant mixed, squamous or adenocarcinoma. There are two rare histologies, which have much worse prognosis than the standard pathological diagnoses: Anaplastic small cell and adenosquamous carcinoma of the salivary glands.
Anaplastic Small Cell Carcinoma of the Salivary Glands is a type of cancer that displays very aggressive metastatic behavior. Microscopically, the cancer cells have oval, hyperchromatic nuclei and scant amount of cytoplasm and are organized in sheets, strands, and nests. At time of diagnosis, distant metastatic disease is almost always present.
Adenosquamous Carcinoma of the Salivary Glands is an extremely rare malignant neoplasm that simultaneously arises from surface mucosal epithelium and salivary gland ductal epithelium. The carcinoma shows histopathologic features of both squamous cell carcinoma and adenocarcinoma.
DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM
Diagnostic Testing: Pathologic evaluation of tissue obtained by needle biopsy or surgery is the only way to determine salivary cancer. After a salivary cancer diagnosis, the extent of disease can be evaluated by various tests, which include MRI, CT scan, PET scan, ultrasound, and endoscopy.
Physical findings: Symptoms and physical findings in individuals with Adenosquamous Carcinoma of the Salivary Gland may include:
Visible changes in the mucosa including erythema, ulceration, and induration;
Pain frequently accompanying ulceration;
A lump (usually painless) in the area of the ear, cheek, jaw, lip, or inside the mouth;
Fluid draining from the ear;
Trouble swallowing or opening the mouth widely;
Numbness or weakness in the face; and
Pain in the face that does not go away.
Adenosquamous Carcinoma of the Salivary Gland behaves aggressively with extensive infiltrating local disease as well as distant metastatic disease.
In Anaplastic Small Cell Carcinoma of the Salivary Glands, symptoms may include:
A fast-growing tumor, associated with pain in some cases;
Facial paralysis; and
Eating and chewing difficulties;
Tumors in the mouth that ulcerate and bleed.
Progression can be with local recurrence or distant metastases.
Anaplastic Small Cell Carcinoma of the Salivary Glands - Neuroendocrine carcinomas are frequently found in the minor salivary glands. Individuals with this type of cancer have a better survival rate compared to those with small cell carcinomas of the lung.
Adenosquamous Carcinoma of the Salivary Gland - Limited data indicate that this is a highly aggressive neoplasm with a poor prognosis.
Treatment can consist of surgery, radiation, and chemotherapy in various combinations depending on the clinical circumstances. Unfortunately, treatment for Anaplastic Small Cell Carcinoma of the Salivary Glands or Adenosquamous Carcinoma of the Salivary Gland is rarely curative.
A pathology report on needle biopsy or surgical specimen showing Small Cell Carcinoma or Adenosquamous Carcinoma.
Small Cell Adenosquamous Carcinoma of the Salivary Gland equals the criteria in 13.08 because its poor prognosis is similar to the impairment in the listing.
Sandhoff Disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. Sandhoff disease is caused by a mutation (defect) in the HEXB gene. This defect causes a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.
Infantile form: Onset of the disorder usually occurs at 6 months of age. Infants with Sandhoff disease typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken.
Diagnostic testing: Positive gene testing confirms the diagnosis of this disease. A simple blood enzyme analysis test that measures HEXB activity can identify individuals and carriers of Sandhoff Disease.
Physical findings: Sandhoff Disease symptoms may include:
Startle reaction to sound;
Progressive mental and motor deterioration;
Macrocephaly (an abnormally enlarged head);
Cherry-red spots in the eyes;
Myoclonus (shock-like contractions of a muscle);
Frequent respiratory infections;
Doll-like facial appearance, and
Onset occurs by 6 months of age. The prognosis for individuals with Sandhoff disease is poor. In the Infantile form, affected children usually do not survive past the age of 3 and death is generally caused by respiratory infections.
Genetic testing for a mutation in the HEXB gene, and a clinical description of the physical and developmental features.
If definitive genetic testing is not available, the results of other laboratory studies such as enzyme assays, molecular cell analysis, and tissue biopsy can be substituted.
SMALL CELL (OAT CELL) CANCER OF THE
Cancer of the Ovary; Small Cell Carcinoma of the Ovary; SCCO
Small Cell Cancer of the Ovary is an extremely rare type of ovarian cancer that is distinguished from other ovarian epithelial and ovarian germ cell tumors. It is divided into two types, the hypercalcemic and the pulmonary type, of which the latter is extremely rare. Small cell cancer of the ovary tends to occur in young women (under 40 years of age).
Diagnostic testing: There is no standard or routine screening test for small cell cancer of the ovary. Pelvic exam, transvaginal ultrasound may detect ovarian cancer. Biopsy is the primary method of diagnosis and staging of the disease.
Physical findings: Symptoms of small cell cancer of the ovary are often subtle. They may include:
Persistent bloating or increased abdominal size;
Pelvic or abdominal pain;
ICD-9: 789.51, 795.82
Small Cell Cancer of the Ovary is a highly aggressive tumor. Metastatic tumor occurs mostly within the pelvis and abdomen, but hematogenous spread also occurs. Only one-third of patients with stage Ia disease have disease-free follow-up periods and almost all patients with higher stage tumors die of disease, usually within 2 years.
The primary form of treatment for Small Cell Cancer of the Ovary is surgery with chemotherapy or radiotherapy, depending on the stage of the disease. Effective treatment of patients with high-stage tumors or recurrent disease has not been achieved; although rare, patients with high stage tumors have survived over 4 years after intensive chemotherapy, radiation therapy, or both.
A pathology report of a biopsy specimen from the ovary showing small cell cancer. There is no substitute for pathology.
SMALL CELL (OAT CELL) CANCER OF THE
Cancer of the Prostate Gland; Prostatic Cancer; Prostatic Carcinoma; Small Cell Carcinoma (SCC) of the Prostate
Small Cell Cancer of the Prostate is a rare cancer occurring less than 1% of all cancers of the prostate. They are aggressive tumors that often present at advanced stages or as metastatic diseases and are occasionally associated with paraneoplastic syndromes. Some small cell carcinomas represent recurrent tumors after hormonal therapy for conventional adenocarcinomas of the prostate. More commonly, small cell carcinoma is present as a component of mixed tumors, which also contain a component of conventional adenocarcinoma. Small cell carcinomas of the prostate are similar to the more common small cell carcinomas of the lung.
They are characterized by the following features:
Solid, sheet-like growth pattern, often with areas of tumor necrosis;
Small, round to spindle cells with scant cytoplasm, high nuclear/cytoplasmic ration and ill-defined borders;
Hyperchromatic nuclei with finely granular chromatin and nuclear molding;
Absent or inconspicuous nucleoli; and
High mitotic rate.
Diagnostic testing: Small cell carcinomas are often positive for NE markers chromogranin-A, synaptophysin and NSE although one or more of these markers may be negative in any given case. Like small cell carcinomas of the lung, tumor cells often show dot-like cytokeratin staining pattern and are often positive for TTF-1. In contrast to prostatic adenocarcinoma, tumor cells of small cell carcinoma are usually negative for androgen receptor and PSA but exceptions exist.
Physical findings: Small Cell Carcinoma of the Prostate presents as a solid growth pattern, which makes it difficult to separate from adenocarcinomas, however, immunohistochemical study can help in diagnosing this condition.
Hormonal therapy is not effective in treating small cell carcinoma of the prostate and neither is surgery. The general response to chemotherapy, the main form of therapy for small cell carcinoma, is some initial response but progressing to a rather rapid downhill course.
A pathology report of a biopsy specimen from the prostate showing small cell histology. There is no substitute for pathology.
SMALL CELL (OAT CELL) CANCER OF THE THYMUS
Thymic Small Cell Carcinoma; Small Cell Carcinoma of the Thymus
Small Cell Cancer of the Thymus is a rare aggressive type of cancer in which malignant cancer cells form on the outside surface of the thymus. The thymus is a small organ that is located behind the breast bone (sternum) in the front part of the mediastinum, the space in the chest between the lungs. This type of cancer is among the rarest cancer in humans, comprising of <1% of all adult cancers. The exact cause of this cancer is unknown. These cancers are often associated with autoimmune diseases (i.e. myasthenia gravis, polymyositis, lupus erythematous, rheumatoid arthritis, thyroiditis, Sjogren's syndrome and hypogammaglobulinemia).
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Medical history and examination;
Imaging tests such as chest x-ray, CT scan and MRI scan;
Blood tests; or
Needle biopsy or surgical biopsy.
Physical findings: The thymus is located near the superior vena cava, the main blood vessel that brings blood from the head and upper body to the heart. Tumors that press on this vessel may cause:
Swelling in the face, neck, and upper chest;
People may have a bluish color on the upper body;
Swelling of the visible veins in the upper body;
Reports of dizziness or light-headedness.
Small cell cancers of the thymus tend to grow fast and spread (metastasize) to other parts of the body and they have a high risk of recurrence. The prognosis is poor, as it is with all small-cell carcinomas.
This type of cancer is generally treated with surgery to remove the tumor, radiation, and chemotherapy. Chemotherapy may be prescribed prior to surgical resection to shrink the size of the tumor.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Pathology report of a biopsy or surgical specimen of the thymus showing small cell histology.
Small Cell Cancer of the Thymus is rare in children.
Gastric Cancer; Gastric Carcinoma; Stomach Carcinoma
Stomach Cancer forms in tissues lining the stomach. Age, diet, and stomach diseases can affect the risk of developing stomach cancer. In the early stages, the following symptoms may occur: indigestion and stomach discomfort, a bloated feeling after eating, mild nausea, loss of appetite, and/or heartburn. In more advanced stages, the following symptoms may occur: blood in the stool, vomiting, unintentional weight loss, stomach pain, jaundice, and/or trouble swallowing.
Diagnostic testing: The following may be used to diagnose the disease: physical exam and history, blood tests, endoscopy, fecal occult blood test (FOBT), barium swallow, biopsy, and/or CT scan.
Physical findings: Most symptoms of gastric cancer reflect advanced disease. Patients may complain of one or more of the following:
The progression of the disease depends on the stage and extent of the cancer, as well as the patient's general health. Stomach cancer is often in an advanced stage when diagnosed and is rarely cured.
Treatment may include surgery, chemotherapy, radiation, or chemo-radiation. Treatment of Stage IV Gastric Cancer may include palliative chemotherapy, endoluminal laser therapy or endoluminal stent placement, palliative surgery, and/or a clinical trial of new combinations of chemotherapy.
ANAPLASTIC THYROID CANCER
Anaplastic Thyroid Carcinoma; Thyroid Cancer
Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight).
There are four main types of thyroid cancer based on how the cancer cells look under a microscope:
Anaplastic (makes up for about 2% of all thyroid cancers).
It begins in the follicular cells of the thyroid. The cancer cells tend to grow and spread very quickly. Anaplastic thyroid cancer is very hard to control. Early Thyroid Cancer often does not have symptoms. As the cancer grows, symptoms may include:
A lump in the front of the neck;
Hoarseness or voice changes;
Swollen lymph nodes in the neck;
Trouble swallowing or breathing; and
Pain in the throat or neck that does not go away.
Diagnostic testing: Diagnostic testing should include a history and physical exam to detect growths or swelling in the lymph nodes; blood tests to detect abnormal levels of TSH; ultrasound to detect thyroid nodules that are too small to be felt; thyroid scan and biopsy. A biopsy is the only sure way to diagnose Thyroid Cancer.
Physical findings: Firm cervical masses are highly suggestive of regional lymph node metastasis. Vocal fold paralysis implies involvement of the recurrent laryngeal nerve.
Anaplastic Thyroid Cancer makes up about 2% of all thyroid cancers. Median survival is usually 4-5 months from the time of diagnosis.
People with thyroid cancer have many treatment options. Treatment usually begins within a few weeks after the diagnosis. The choice of treatment depends on the type of thyroid cancer (papillary, follicular, medullary, or anaplastic), the size of the nodule, the age of the individual, and whether the cancer has spread. Cancer may be treated with surgery, thyroid hormone treatment, radioactive iodine therapy, external radiation therapy, or chemotherapy. Most individuals receive a combination of treatments.
The diagnosis of Anaplastic Thyroid Cancer is based on the pathology report from a thyroid biopsy specimen.
Metastatic Transitional Cell Carcinoma of the Ureter (Stage IV); Squamous Cell Cancer of the Ureter; Squamous Cell Carcinoma of the Ureter; Adenocarcinoma of the Ureter; Ureter Carcinoma
Ureter Cancer forms in transitional cells in the lining of the bladder, ureter, or renal pelvis. Transitional cells are cells that can change shape and stretch without breaking apart. Misuse of certain pain medications can affect the risk of developing transitional cell cancer of the renal pelvis or ureter.
Risk factors can include prolonged misuse of certain pain medications, smoking cigarettes, exposure to certain dyes and chemicals used in making leather goods, textiles, plastics, or rubber.
Diagnostic testing: The following tests may be used to diagnose the disease: physical exam and history, urinalysis, ureteroscopy, urine cytology, intravenous pyelogram (IVP), CT scan, and/or ultrasound.
Persistent back pain;
Unintentional weight loss; and/or
Painful or frequent urination.
If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy may be utilized for palliation, but the prognosis is poor.