1p36 Deletion Syndrome

Acute Leukemia

Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

Adult Non-Hodgkin Lymphoma

Adult Onset Huntington Disease

Aicardi-Goutieres Syndrome

Alexander Disease (ALX) -- Neonatal and Infantile

Allan-Herndon-Dudley Syndrome

Alobar Holoprosencephaly

Alpers Disease

Alpha Mannosidosis -- Type II and III

Alstrom Syndrome

Alveolar Soft Part Sarcoma

Amegakaryocytic Thrombocytopenia

Amyotrophic Lateral Sclerosis (ALS)

Anaplastic Adrenal Cancer -- with distant metastases or inoperable, unresectable or recurrent

Anaplastic Ependymoma

Angelman Syndrome

Angioimmunoblastic T-Cell Lymphoma

Angiosarcoma

Aortic Atresia

Aplastic Anemia

Astrocytoma -- GRADE III and IV

Ataxia Telangiectasia

Atypical Teratoid/Rhabdoid Tumor

Batten Disease

Beta Thalassemia Major

Bilateral Optic Atrophy -- Infantile

Bilateral Retinoblastoma

Bladder Cancer -- with distant metastases or inoperable or unresectable

Blastic Plasmacytoid Dendritic Cell Neoplasm

Breast Cancer -- with distant metastases or inoperable or unresectable

CACH -- Vanishing White Matter Disease -- Infantile and Childhood Onset Forms

Calciphylaxis

Canavan Disease (CD)

Carcinoma of Unknown Primary Site

Cardiac Amyloidosis - AL Type

Caudal Regression Syndrome - Types III and IV

CDKL5 Deficiency Disorder

Cerebro Oculo Facio Skeletal (COFS) Syndrome

Cerebrotendinous Xanthomatosis

Charlevoix-Saguenay Spastic Ataxia

Child Neuroblastoma- - with distant metastasis or recurrent

Child Non-Hodgkin Lymphoma -- recurrent

Child T-Cell Lymphoblastic Lymphoma

Cholangiocarcinoma

Chondrosarcoma- - with multimodal therapy

Choroid Plexus Carcinoma

Chronic Idiopathic Intestinal Pseudo Obstruction

Chronic Myelogenous Leukemia -- Blast Phase

CIC-rearranged Sarcoma

Coffin-Lowry Syndrome

Congenital Lymphedema

Congenital Myotonic Dystrophy

Congenital Zika Syndrome

Cornelia de Lange Syndrome -- Classic Form

Corticobasal Degeneration

Creutzfeldt-Jakob Disease (CJD) -- Adult

Cri du Chat Syndrome

Degos Disease, Systemic

DeSanctis Cacchione Syndrome

Desmoplastic Mesothelioma

Desmoplastic Small Round Cell Tumors

Dravet Syndrome

Duchenne Muscular Dystrophy – Adult

Early-Onset Alzheimer’s Disease

Edwards Syndrome (Trisomy 18)

Eisenmenger Syndrome

Endometrial Stromal Sarcoma

Endomyocardial Fibrosis

Ependymoblastoma (Child Brain Tumor)

Erdheim Chester Disease

Esophageal Cancer

Esthesioneuroblastoma

Ewing Sarcoma

Farber’s Disease (FD) -- Infantile

Fatal Familial Insomnia

Fibrodysplasia Ossificans Progressiva

Fibrolamellar Cancer

Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

FOXG1 Syndrome

Friedreichs Ataxia (FRDA)

Frontotemporal Dementia (FTD) Picks Disease -- Type A – Adult

Fryns Syndrome

Fucosidosis – Type I

Fukuyama Congenital Muscular Dystrophy

Fulminant Giant Cell Myocarditis

Galactosialidosis – Early and Late Infantile Types

Gallbladder Cancer

Gaucher Disease (GD) -- Type 2

Gerstmann-Straussler-Scheinker Disease

Giant Axonal Neuropathy

Glioblastoma Multiforme (Brain Tumor)

Glioma Grade III and IV

Gluteric Acidemia – Type II

GM1 - Gangliodosis - Infantile & Juvenile Forms

Head and Neck Cancers -- with distant metastasis or inoperable or unresectable

Heart Transplant Graft Failure

Heart Transplant Wait List – 1A/1B

Hemophagocytic Lymphohistiocytosis

Hepatoblastoma

Hepatopulmonary Syndrome

Hepatorenal Syndrome

Histiocytosis Syndromes

Hoyeraal-Hreidarsson Syndrome

Hutchinson-Gilford Progeria Syndrome

Hydranencephaly

Hypocomplementemic Urticarial Vasculitis Syndrome

Hypophosphatasia- Perinatal (Lethal) and Infantile Onset Types

Hypoplastic Left Heart Syndrome

I Cell Disease

Idiopathic Pulmonary Fibrosis

Infantile Free Sialic Acid Storage Disease

Infantile Neuroaxonal Dystrophy (INAD)

Infantile Neuronal Ceroid-Lipofuscinoses

Inflammatory Breast Cancer (IBC)

Intracranial Hemangiopericytoma

Jervell and Lange-Nielsen Syndrome

Joubert Syndrome

Junctional Epidermolysis Bullosa Lethal Type

Juvenile Onset Huntington Disease

Kidney Cancer -- inoperable or unresectable

Kleefstra Syndrome

Krabbe Disease (KD) -- Infantile

Kufs Disease Type A and B

Large Intestine Cancer -- with distant metastasis or inoperable, unresectable or recurrent

Late Infantile Neuronal Ceroid-Lipofuscinoses

Leber Congenital Amaurosis

Leigh’s Disease

Leiomyosarcoma

Leptomeningeal Carcinomatosis

Lesch-Nyhan Syndrome (LNS)

Lewy Body Dementia

Liposarcoma – metastatic or recurrent

Lissencephaly

Liver Cancer

Lowe Syndrome

Lymphomatoid Granulomatosis - Grade III

Malignant Brain Stem Gliomas - Childhood

Malignant Ectomesenchymoma

Malignant Gastrointestinal Stromal Tumor

Malignant Germ Cell Tumor

Malignant Multiple Sclerosis

Malignant Renal Rhabdoid Tumor

Mantle Cell Lymphoma (MCL)

Maple Syrup Urine Disease

Marshall-Smith Syndrome

Mastocytosis - Type IV

MECP 2 Duplication Syndrome

Medulloblastoma - with metastasis

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megalencephaly-Capillary Malformation Syndrome

Menkes Disease - Classic or Infantile Onset Form

Merkel Cell Carcinoma - with metastasis

Merosin Deficient Congenital Muscular Dystrophy

Metachromatic Leukodystrophy - Late Infantile

Metastatic Endometrial Adenocarcinoma

Microvillus Inclusion Disease – Child

Mitral Valve Atresia

Mixed Dementia

Mowat-Wilson Syndrome

MPS I, formerly known as Hurler Syndrome

MPS II, formerly known as Hunter Syndrome

MPS III, formerly known as Sanfilippo Syndrome

Mucosal Melanoma

Multicentric Castleman Disease

Multiple System Atrophy

Myelodysplastic Syndrome with Excess Blasts

Myocolonic Epilepsy and Ragged Red Fibers Syndrome

Neonatal Adrenoleukodystrophy

(Neonatal) Glutaric Acidemia

Nephrogenic Systemic Fibrosis

NFU-1 Mitochondrial Disease

Nicolaides-Baraitser Syndrome

Niemann-Pick Disease (NPD) -- type A

Niemann-Pick Disease Type C

Nonketotic Hyperglycinemia

Non-Small Cell Lung Cancer -- with metastases to or beyond the hilar nodes or inoperable, unresectable or recurrent

NUT Carcinoma

Obliterative Bronchiolitis

Ohtahara Syndrome

Oligodendroglioma Brain Tumor- Grade III

Ornithine Transcarbamylase (OTC) Deficiency

Orthochromatic Leukodystrophy with Pigmented Glia

Osteogenesis Imperfecta (OI) -- Type II

Osteosarcoma, formerly known as Bone Cancer -- with distant metastases or inoperable or unresectable

Ovarian Cancer -- with distant metastases or inoperable or unresectable

Pallister-Killian Syndrome

Pancreatic Cancer

Paraneoplastic Cerebellar Degeneration

Paraneoplastic Pemphigus

Patau Syndrome (Trisomy 13)

Pearson Syndrome

Pelizaeus-Merzbacher Disease -- Classic Form

Pelizaeus-Merzbacher Disease -- Connatal Form

Pericardial Mesothelioma

Peripheral Nerve Cancer -- metastatic or recurrent

Peritoneal Mesothelioma

Peritoneal Mucinous Carcinomatosis

Perry Syndrome

Pfeiffer Syndrome - Types II and III

Phelan-McDermid Syndrome

Pineoblastoma - Childhood

Pitt Hopkins Syndrome

Pleural Mesothelioma

Pompe Disease -- Infantile

Pontocerebellar Hypoplasia

Posterior Cortical Atrophy

Primary Central Nervous System Lymphoma

Primary Effusion Lymphoma

Primary Omental Cancer

Primary Peritoneal Cancer

Primary Progressive Aphasia

Progressive Bulbar Palsy

Progressive Multifocal Leukoencephalopathy

Progressive Supranuclear Palsy

Prostate Cancer- Hormone Refractory Disease— or with visceral metastases

Pulmonary Atresia

Pulmonary Kaposi Sarcoma

Refractory Hodgkin Lymphoma

Renal Amyloidosis - AL Type

Renpenning Syndrome

Retinopathy of Prematurity - Stage V

Rett (RTT) Syndrome

Revesez Syndrome

Rhabdomyosarcoma

Rhizomelic Chondrodysplasia Punctata

Richter Syndrome

Roberts Syndrome

Rubinstein-Taybi Syndrome

Salivary Tumors

Sandhoff Disease

Sarcomatoid Carcinoma of the Lung -- Stages II-IV

Sarcomatoid Mesothelioma

Schindler Disease -- Type I

SCN8A-related Epilepsy with Encephalopathy

Seckel Syndrome

Secondary Adenocarcinoma of the Brain

Severe Combined Immunodeficiency - Childhood

Single Ventricle

Sinonasal Cancer

Sjogren-Larsson Syndrome

Skin Malignant Melanoma—with metastases

Small-Cell Cancer of the Large Intestine

Small-Cell Cancer of the Ovary

Small-Cell Cancer of the Prostate

Small-Cell Cancer of the Thymus

Small-Cell Cancer of the Uterus

Small-Cell Lung Cancer

Small Intestine Cancer -- with distant metastases or inoperable, unresectable or recurrent

Smith Lemli Opitz Syndrome

Soft Tissue Sarcoma – with distant metastases or recurrent

Spinal Muscular Atrophy (SMA) -- Types 0 and 1

Spinal Nerve Root Cancer -- metastatic or recurrent

Spinocerebellar Ataxia

Stiff Person Syndrome

Stomach Cancer -- with distant metastases or inoperable, unresectable or recurrent

Subacute Sclerosing Panencephalitis

Superficial Siderosis of the Central Nervous System

SYNGAP1-related NSID

Tabes Dorsalis

Tay Sachs Disease

Taybi-Linder Syndrome

Tetrasomy 18p

Thanatophoric Dysplasia, Type 1

The ALS/Parkinsonism Dementia Complex

Thyroid Cancer

Transplant Coronary Artery Vasculopathy

Tricuspid Atresia

Trisomy 9

Ullrich Congenital Muscular Dystrophy

Ureter Cancer -- with distant metastases or inoperable, unresectable or recurrent

Usher Syndrome - Type I

Ventricular Assist Device Recipient

Walker Warburg Syndrome

Wolf-Hirschhorn Syndrome

Wolman Disease

Xeroderma Pigmentosum

X-Linked Lymphoproliferative Disease

X-Linked Myotubular Myopathy

ALTERNATE NAMES

Chromosome 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Lethal 1p36.33 deletion syndrome; Monosomy 1p36; Monosomy 1p36 syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion

DESCRIPTION

1p36 Deletion Syndrome is a rare chromosome disorder that typically causes severe intellectual disability. Most individuals do not speak or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. More than half of individuals with this disorder have structural abnormalities of the brain and experience seizures.

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a balanced translocation, in which no genetic material is gained or lost.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of 1p36 deletion syndrome is made by:

• •

  Fluorescence in situ hybridization (FISH);

• •

  Comparative genomic hybridization array;

• •

  Echocardiogram;

• •

  Electrocardiogram (ECG);

• •

  Magnetic resonance imaging (MRI);

• •

  Electroencephalogram (EEG);

• •

  Neurodevelopmental assessment; and

• •

  Standard examinations for eye/vision problems, hearing loss, and skeletal and renal abnormalities.

Physical findings: Individuals with 1p36 deletion may have:

• •

  Weak muscle tone (hypotonia);

• •

  Swallowing difficulties (dysphagia);

• •

  A small head that is unusually short and wide (microbrachycephaly);

• •

  Vision problems;

• •

  Hearing loss (sensorineural or conductive/glue ear);

• •

  Abnormalities of the brain, skeleton, heart, gastrointestinal system, kidneys, or genitalia;

• •

  Hypothyroidism; and

• •

  Distinctive facial features.

ICD-9:758.9

ICD-10:Q93.5

PROGRESSION

Individuals with 1p36 syndrome survive well into adult life.

The progression of 1p36 deletion syndrome varies between affected individuals. Seizures and other medical issues seem to improve with time. Individuals diagnosed with this disorder will remain dependent on others for most activities of daily living and will require medical support throughout life.

TREATMENT

The management of 1p36 deletion syndrome should be multi-disciplinary and include regular follow-ups. Early diagnosis and access to personalized rehabilitation therapies focusing on motor development, cognition, communication, and social skills are highly recommended. The use of sign language is helpful. Some congenital heart defects may resolve on their own, others may require medication or surgery. Epileptic seizures are treated with standard antiepileptic medications. Infantile spasms are responsive to corticotrophin. Feeding and growth should be monitored as feeding difficulties are common in infancy and early childhood.

Suggested MER for Evaluation:

• •

  Clinical history and physical examination that describes the diagnostic features of the impairment;

• •

  Results of FISH testing;

• •

  Results of imaging (echocardiogram, ECG, MRI, EEG); or

• •

  Results of neurodevelopmental assessment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Equals

ALTERNATE NAMES

Calcific Uremic Arteriolopathy; Uremic Gangrene Syndrome

DESCRIPTION

Calciphylaxis is a rare metabolic disease in which calcium builds up in the walls of veins and arteries, blocking blood flow and resulting in damage to multiple organ systems. The denial of blood to tissues causes painful, infected sores on the skin that cannot heal without external intervention.

Although the exact cause is unknown, calciphylaxis is usually observed in people with end-stage renal disease (ESRD) who are on dialysis or have undergone a kidney transplant. When seen in people with normal kidney function, associated comorbidities tend to include inflammatory bowel disease, autoimmune disorders, or cancer.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A diagnosis of calciphylaxis can be confirmed through skin biopsy, function tests of the kidneys and liver, and tests for concentration of calcium and other minerals in the blood. In some advanced cases involving ESRD, diagnosis is possible through visual inspection of wounds.

Physical signs and symptoms of calciphylaxis may include:

• •

  Fatigue;

• •

  Pain;

• •

  Muscle weakness;

• •

  Aches and cramps;

• •

  Vision problems;

• •

  Skin lesions and sores; and

• •

  Skin necrosis.

ICD-9: 275.49

ICD-10: E83.59

PROGRESSION

The prognosis for people with calciphylaxis is extremely poor. The condition tends to advance rapidly, causing intense pain and organ failure. The disease is usually fatal.

TREATMENT

There is no cure for calciphylaxis. Treatment is supportive and focused on pain relief and wound care.

Intravenous administration of sodium thiosulfate (STS) has shown some promise in dissolving calcium in the blood, improving blood flow, and promoting wound healing. However, this is an experimental, off-label use of STS; more study is required.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Laboratory tests confirming impaired liver and kidney function, and threshold levels of calcium on fat and blood.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

6.03

6.04

6.09

Equals

6.09

8.04

Calciphylaxis can equal listing 8.04 if the skin lesions produced by non-infectious conditions persist for at least 3 months despite continuing treatment as prescribed.

ALTERNATE NAMES

Pineoblastoma; Pineoblastoma – Child; Pinealoma – Childhood; Pinealoma – Child; Pinealoblastoma

DESCRIPTION

Pineoblastoma is an aggressive cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. These tumors are primary central nervous system tumors that start in the brain and can spread to the spinal cord and beyond.

Pineoblastoma’s fast growth usually causes cerebrospinal fluid (CSF) to build up in and around the brain (hydrocephalus), increasing intracranial pressure. The cause of pineoblastoma is unknown, but specific inherited variants in two genes, RB1 and DICER1 are associated with increased risk for developing pineoblastoma.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of pineoblastoma is made by:

• •

  Magnetic resonance imaging (MRI);

• •

  Computerized tomography (CT) scan;

• •

  Positron emission tomography (PET) scan;

• •

  Tissue biopsy; and

• •

  Cerebrospinal fluid (CSF) testing.

Physical findings: The physical findings of pineoblastoma depend on where the cancer is growing in the brain. Some general symptoms are:

• •

  Headaches;

• •

  Nausea;

• •

  Vomiting;

• •

  Difficulty with eye movements (nystagmus);

• •

  Difficulty with balance; and

• •

  Difficulty walking.

ICD-9: 194.4

ICD-10: C75.3

PROGRESSION

While pineal region tumors can occur at any age, they are more common in children. All tumors, except papillary tumors of the pineal region, occur slightly more often in females than males.

The relative five-year survival rate for children is 50-60%. Many factors can affect prognosis, including tumor grade and type, traits of the cancer, the person’s age and health when diagnosed, and response to treatment.

Patients who receive radiation therapy are at risk for long-term endocrine system changes that may lead to problems such as delayed growth, fatigue, and fertility problems. Problems with hydrocephalus can persist in patients who have been successfully treated.

TREATMENT

The first treatment for pineal region tumors is surgery to remove or reduce the size of the tumor and to obtain tissue to determine the tumor type.

Treatments after surgery may include radiation therapy, chemotherapy, and/or clinical trials. Very young children are treated with a combination of chemotherapy medications to delay radiation therapy until the child is older. Clinical trials, with new chemotherapy, targeted therapy, or immunotherapy drugs, may also be available.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Imaging reports such as CT scan or MRI scan;

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.13 B

113.13 C

Listing level severity must be documented.

Equals

ALTERNATE NAMES

Full Trisomy 9: Full Trisomy 9

Mosaic Trisomy 9: Mosaic Trisomy 9; Mosaicism Syndrome

DESCRIPTION

Trisomy 9 is a congenital impairment in which the body’s cells contain an extra copy of all or part of Chromosome 9, resulting in serious effects on growth and function of a broad array of body systems.

Signs and symptoms vary from person to person depending on the percentage of affected cells, and what portion of the chromosome is duplicated. Typical signs and symptoms include severe intellectual deficit, developmental delay, growth issues, congenital heart defects, and craniofacial abnormalities.

There are three types of Trisomy 9:

• •

  When all cells contain three copies of the extra chromosome, this is known as Full Trisomy 9.

• •

  Cases in which some cells contain an additional copy of the entire chromosome are designated as Mosaic Trisomy 9.

• •

  Cases in which cells have two full copies of Chromosome 9 and part of an additional third partial copy are designated as Partial Trisomy 9.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Trisomy 9 can be diagnosed prenatally via ultrasound or fetal tissue sampling. Postnatal confirmation can involve chromosomal testing and physical examination.

Physical findings: Physical signs and symptoms of Trisomy 9 may include:

• •

  Misshapen skull and skeletal structure;

• •

  Facial deformities;

• •

  Short stature and limbs;

• •

  Hearing and vision impairment;

• •

  Difficulty with balance and mobility;

• •

  Structural malformations of the heart; or

• •

  Intellectual and developmental delay.

ICD-9: 758.5

ICD-10: Q92.1 (Mosaic); Q92.9 (Full)

PROGRESSION

Developmental effects of Trisomy 9 can be observed in the fetus prior to birth.

Full Trisomy 9 is almost always fatal, causing a miscarriage.

Mosaic Trisomy 9 usually results in death in early infancy, and rarely, some infants live beyond the first year of life.

Partial Trisomy 9 does not always affect the life expectancy of an infant. With appropriate management, individuals with Partial Trisomy 9 may survive to adulthood. However, infants with Partial Trisomy 9 have a range of health problems and developmental delays.

TREATMENT

There is no cure for Trisomy 9. Treatment is symptomatic and supportive.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Laboratory tests confirming presence and extent of chromosomal duplication.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

100.04

100.05

104.06

110.08

112.02

112.05

112.14

Equals

ALTERNATE NAMES

Amaurosis Congenita of Leber; Congenital Absence of Rods and Cones; Congenital Retinal Blindness; LCA; Leber’s Amaurosis; Leber’s Congenital Amaurosis; Leber’s Congenital Tapetoretinal Degeneration; Leber’s Congenital Tapetoretinal Dysplasia

DESCRIPTION

Leber Congenital Amaurosis (LCA) is a disease of infancy in which the rods and cones -- the photoreceptors in the retinas which detect color and light -- fail to properly develop, resulting in severe vision impairment. It is the most common cause of blindness in children.

LCA is a genetic disorder that follows an autosomal-recessive inheritance pattern. It can be caused by defects on one of several genes, most commonly CEP290, CRB1, GUCY2D, and REP65. There are currently over 20 identified variants of LCA; in about 30 percent of cases, the affected gene is not determinable.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: LCA is diagnosed through ophthalmological and laboratory testing. Electroretinogram tests measure the function of the rods and cones; a genetic workup can help identify the affected gene.

Physical findings: Symptoms of LCA include:

• •

  Low or no vision;

• •

  Photophobia (hypersensitivity to light);

• •

  Nystagmus (involuntary twitching of the eyes);

• •

  Hyperopia (extreme farsightedness);

• •

  Franceschetti’s oculo-digital sign (compulsive rubbing and poking of the eye with a finger);

• •

  Cataracts; and

• •

  Glaucoma.

ICD-9: 362.70

ICD-10: H35.50

PROGRESSION

Generally, people with LCA require assistive devices and care for the duration of their lives. Some children with LCA experience slight improvement in visual acuity as they mature, but this is uncommon.

TREATMENT

There is no cure for LCA. Treatment is supportive and relies on standard tools and devices (e.g., canes, audio cues, service animals) to assist with mobility and other activities of daily living.

Clinical trials involving gene therapy have shown some promise in restoring retinal function, but overall results are inconclusive and further study is needed.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Laboratory tests confirming visual impairment and retinal dysfunction.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.02

102.02

Equals

ALTERNATE NAMES

Anaplastic Ependymal Cancer; Anaplastic Ependymal Carcinoma; Anaplastic Ependymoma Cancer; Anaplastic Ependymoma Carcinoma; Anaplastic Tumor; Anaplastic Ependymal Cancer; Anaplastic Ependymal Tumor; Malignant Ependymoma

DESCRIPTION

Anaplastic Ependymoma is a malignant tumor that forms in the central nervous system (including the brain and spinal cord). An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape.

The symptoms of an anaplastic ependymoma depend on the age of the person and the size and location of the tumor. Anaplastic ependymoma is very aggressive and is classed by the World Health Organization (WHO) as a Grade III central nervous system cancer (CNS).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of anaplastic ependymoma is made by:

• •

  Magnetic resonance imaging (MRI) or computed tomography (CT) scan;

• •

  Tissue biopsy; and

• •

  Tumor resection (removal).

Physical findings: Symptoms of anaplastic ependymoma may include:

• •

  Headaches;

• •

  Nausea;

• •

  Vision changes;

• •

  Seizures; and

• •

  Changes in mood or personality.

ICD-9: 191.9

ICD-10: C71.9

PROGRESSION

Ependymomas can occur at any age. When ependymomas occur in children, they are frequently located in the brain (intracranial). In adults, ependymomas are often found in the spinal cord.

The exact cause of anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as somatic genetic changes) in specific genes in some cells of the body allow the cells to begin growing quickly.

For Grade III anaplastic ependymomas the prognosis is poor. The relative 5-year survival rate for ependymoma is about 60% but many factors can affect prognosis. This includes the tumor grade and type, traits of the cancer, the person’s age and health when diagnosed, and how they respond to treatment.

TREATMENT

The treatment of anaplastic ependymoma is surgical if the tumor is localized and technically resectable. If surgery is not an option, chemotherapy and radiation therapy are alternative treatments.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Imaging reports such as CT scan or MRI scan; and

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 2

113.13 B

Anaplastic ependymoma is a Grade III CNS cancer. Response to treatment is not necessary to meet the listing.

Equals

ALTERNATE NAMES

Lung Carcinosarcoma; Pulmonary Sarcomatoid Carcinoma; Pulmonary Carcinosarcoma; Spindle-cell Carcinoma; Lung Sarcomatoid Carcinoma Stages II - IV

DESCRIPTION

Sarcomatoid Carcinoma of the Lung is an aggressive (fast-growing) cancer that is a mix of carcinoma and sarcoma cancer types. Sarcomatoid carcinomas can appear throughout the body but are most commonly observed in the lung. The tumor is usually locally advanced at the time of diagnosis, with a large proportion of pleural invasion, either vascular or parietal.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD--9CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of sarcomatoid carcinoma of the lung is made by:

• •

  Physical examination;

• •

  Computed tomography (CT) scan;

• •

  Positron emission tomography (PET) scan;

• •

  Magnetic resonance imaging (MRI);

• •

  Histopathology; and

• •

  Immunohistochemistry.

Physical findings: Symptoms of sarcomatoid carcinoma of the lung include:

• •

  Chest pain;

• •

  Breathing difficulties;

• •

  Fatigue;

• •

  Unexplained weight loss;

• •

  Dry cough; and

• •

  Bloody phlegm.

ICD-9: 199.1

ICD-10: C34.90

PROGRESSION

Sarcomatoid carcinoma that starts in the lung often spreads quickly. Tumors may spread to the lymph nodes, followed by the adrenal glands, brain, bone, liver, kidney , peritoneum (the lining of the abdomen and abdominal organs), pancreas, skin, and heart.

Sarcomatoid carcinoma is most common in people assigned male at birth and people with a history of tobacco use. The average age of diagnosis is 65. Stage I fully resected tumors have a long-term cure rate of 50% or better. Stage II-IV tumors have a much poorer prognosis, with average survival of only 2-3 years.

TREATMENT

There is no cure for advanced sarcomatoid carcinoma of the lung. The most common approach to treatment is surgery to remove the tumor followed by chemotherapy. Sarcomatoid carcinoma of the lung is highly aggressive and has a propensity for metastatic spread; and it has a low response rate to traditional treatments such as chemotherapy, radiotherapy, and neoadjuvant therapy. Because the cancer has often spread at the time of diagnosis, radiation therapy, targeted therapy, and immunotherapy may be used when the cancer is causing problems such as pain, bleeding, or difficulties with breathing.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalizations or other medical reports that include details of surgical and pathological findings; and

• •

  Imaging reports (e.g., chest x-rays, CT scan, PET scan, or MRI).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets

13.14 A

Stage II-IV tumors have a high rate of local and metastatic recurrence, and poor prognosis.

Equals

ALTERNATE NAMES

Paraneoplastic Cerebellar Ataxia; PCD; Rapidly Progressive Cerebellar Syndrome; Subacute Cerebellar Degeneration

DESCRIPTION

Paraneoplastic Cerebellar Degeneration (PCD) is paraneoplastic syndrome caused by “killer T-cells,” or cytotoxic CD8+ T lymphocytes attacking normal cells in the cerebellum. Paraneoplastic syndromes are conditions believed to be the result of abnormal responses to undetected underlying malignant tumors.

PCD is a rare, non-metastatic complication that occurs in less than 1% of cancer patients (children and adults). Individuals with ovarian cancer, uterine cancer, breast cancer, small-cell lung cancer, and Hodgkin lymphoma are most often affected by PCD.

The symptoms of PCD can be rapidly progressive and very debilitating and they typically precede the diagnosis of the underlying malignancy. Prompt recognition and treatment of this disease are crucial to the prevention of significant disability.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of PCD is typically made by ruling out more common conditions that affect the cerebellum and other neurological disorders.

Testing used to diagnosis PCD may include:

• •

  Computed tomography scans (CT);

• •

  Cerebellar eye signs;

• •

  Various blood test panels;

• •

  Magnetic resonance imaging (MRI)(MRI of the brain in PCD is usually normal but can show cerebellar atrophy as the disease progresses);

• •

  Fluorodeoxyglucose-positron emission tomography scan; and

• •

  Positron emission tomography-computed tomography (PET/CT).

Physical findings: Physical findings of individuals with PCD may include:

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  Ataxia (loss of coordination);

• •

  Dizziness;

• •

  Dysarthria (slurred speech);

• •

  Dysphagia (difficulty swallowing);

• •

  Blurred vision;

• •

  Nystagmus (dancing eyes); and

• •

  Speech difficulties.

ICD-9: 331.89

ICD-10: G31.9, G32.81

PROGRESSION

Symptoms of PCD usually precede the diagnosis of the underlying cancer diagnosis. They often present very mildly and progress rapidly before ultimately reaching a severely disabled state that is followed by a variable plateau period that can last for months to years.

TREATMENT

Treatment of PCD varies depending on the source and severity of the underlying tumor. Common treatment for the condition may include tumor removal, high dose gammaglobulin therapy, or immunotherapy.

Suggested MER for Evaluation:

• •

  Clinical history and physical examination that describes the diagnostic features of the impairment including a description of gait; and

• •

  Imaging Reports Results of imaging (CT scan, MRI, PET).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

111.17

PCD in adults must meet the conditions of 11.17 A or 11.17 B.

PCD in children must meet the conditions of 111.17.

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ALTERNATE NAMES

Primary Omentum Cancer

DESCRIPTION

Primary Omental Cancer is an extremely rare cancer that begins in the omentum, a fold of the thin tissue known as the peritoneum that surrounds the stomach and other organs in the abdomen. The function of the omentum is not fully understood, but it extends to every organ in the abdomen and drapes over areas of inflammation, acting as a bandage to promote healing if there is an infection or other health problem.

Tumors that originate in the omentum are extremely rare; less than 100 cases have been documented.

Types of primary omental cancer include:

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  Gastrointestinal stromal tumors (GIST),

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  Malignant Hemaniopericytoma, and

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  Leiomyosarcoma.

The cause of primary omental cancer is unknown. Adults older than 50 are more likely to get primary omental cancer.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis of primary omental cancer can be made by:

• •

  Computed tomography (CT) scans;

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  Biopsy;

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  Magnetic resonance imaging (MRI);

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  Positron emission tomography (PET); and

• •

  Ultrasounds.

Physical findings: Many individuals with primary omental cancer do not experience symptoms. Others may notice a new, solid mass in their abdomen. The mass may feel tender to the touch, or it may be painless.

Individuals with primary omental cancer may also have:

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  Abdominal pain;

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  Constipation;

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  Inability to eat a full meal (early satiety);

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  Nausea or vomiting;

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  Swollen abdomen (abdominal distention); or

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  Unexplained weight loss.

ICD-9: 158.8,199.1

ICD-10: C48.1, C80.1

PROGRESSION

Individuals with this condition have a median survival time of only 6 months.

TREATMENT

Because of the rarity of the condition, effective treatment processes are unknown. Chemotherapy or radiotherapy may be effective.

Primary omental cancer is typically found at an advanced stage, but in some cases, tumors can be resected. However, only 10-20% of individuals survive 2 years after surgical removal.

Suggested MER for Evaluation:

• •

  Clinical history and physical examination that describes the diagnostic features of the impairment including a description of the size and stage of tumors;

• •

  Results of imaging (CT scan, MRI, ultrasound); and

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Primary greater omentum sarcomas must be of listing level severity.

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13.04

ALTERNATE NAMES

Bile Duct Adenocarcinoma; Bile Duct Cancer; Biliary Tract Cancer; cHCC-CC; Combined HCC-CC; Combined Hepatocellular Cholangiocarcinoma; Combined hepatocellular-cholangiocarcinoma; Distal Bile Duct Cancer; Distal Cholangiocarcinoma; Distal Extrahepatic Cholangiocarcinoma; Extrahepatic Cholangiocarcinoma; Hepato Cholangiocarcinoma; Hepatocholangiocarcinoma; Hilar Bile Duct Cancer; Hilar Cholangiocarcinoma; Intrahepatic Cholangiocarcinoma; Perihilar Bile Duct Cancer; Perihilar Cholangiocarcinoma

DESCRIPTION

Cholangiocarcinoma is a cancer that develops in the cells within the thin tubes (bile ducts) that bring the fluid that helps you digest food (bile) from the liver and gallbladder to the small intestine.

Cancer that occurs within the bile ducts is categorized as biliary tract cancer (BTC) and can occur in the bile ducts both inside and outside the liver. Because it is a BTC, cholangiocarcinoma is often incorrectly grouped with gallbladder cancers , which are another type of BTC.

There are three types of cholangiocarcinoma:

• •

  Extrahepatic or distal cholangiocarcinoma occurs in the portion of the bile duct nearest the small intestine. The cancer may be in the bile ducts as they exit the liver, or in the bile ducts when they end in the small intestine. This is the most common type of bile duct cancer.

• •

  Intrahepatic cholangiocarcinoma occurs in the parts of the bile ducts within the liver. This type of cancer should not be confused with liver cancer .

• •

  Hilar cholangiocarcinoma, a subset of extrahepatic cholangiocarcinoma, occurs in hilum, the area where the bile ducts and important blood vessels connect with the liver. This type is also called perihilar cholangiocarcinoma.

Cholangiocarcinoma is rare. About 8,000 people in the U.S. develop this cancer each year. It can occur at any age, but most commonly affects people older than 50. Hispanic Americans have a higher risk than other ethnic groups of developing cholangiocarcinoma. The condition is often diagnosed when it is advanced, making successful treatment difficult.

The cause of cholangiocarcinoma is unknown. However, there are some risk factors that suggest that health conditions that cause chronic (long-term) inflammation in the bile ducts may play a role in its development.

Some factors that may increase the risk of cholangiocarcinoma include:

• •

  Primary sclerosing cholangitis (inflammation, hardening, and scarring blocking the bile ducts);

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  Cirrhosis of the liver;

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  Hepatitis B or C infection;

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  Biliary tract stones; and

• •

  Parasitic infection.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A diagnosis of cholangiocarcinoma may be made using:

• •

  Liver function tests;

• •

  Tumor marker tests;

• •

  Abdominal ultrasound;

• •

  Magnetic resonance cholangiopancreatography (MRCP);

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  Endoscopic retrograde cholangiopancreatography (ERCP);

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  Percutaneous transhepatic cholangiography (PTC); or

• •

  Biopsy.

Physical findings: Symptoms and physical findings of cholangiocarcinoma may include:

• •

  Abdominal pain;

• •

  Dark urine;

• •

  Fever;

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  Itchy skin;

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  Jaundice (yellowing of skin and whites of eyes);

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  Light-colored stool;

• •

  Nausea and vomiting; and

• •

  Unexplained weight loss.

ICD-9: 155.1

ICD-10: C22.1

PROGRESSION

The prognosis for people with cholangiocarcinoma is usually poor. The five-year survival rate for bile duct cancer that hasn’t spread outside of the bile ducts is 10% to 15%. This rate drops to 2% if the cancer spreads to areas of the body that are far from the bile ducts, such as the lungs. However, newer treatments mean these rates will improve over time.

TREATMENT

Treatment for cholangiocarcinoma depends on the location of the cancer and if it has spread.

There are various surgical treatments offered for bile duct cancer, such as:

• •

  Bile duct removal (bile duct removal if cancer has not spread);

• •

  Partial hepatectomy (partial removal of the bile duct and sections of the liver);

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  Whipple procedure (removal of the bile duct, gallbladder, and part of the pancreas, stomach, and small intestine);

• •

  Liver transplant; and

• •

  Palliative surgery.

Because most bile duct cancers have spread by the time they are diagnosed, a healthcare provider may recommend a combination of multiple treatments, including radiation therapy, chemotherapy, targeted therapy, and immunotherapy.

Suggested MER for Evaluation:

• •

  Clinical history and physical examination that describes the diagnostic features of the impairment;

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings; and

• •

  Results of liver function tests, tumor marker tests, abdominal ultrasound, MRCP, ERCP, or PTC testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.19

Prognosis is poor based on confirmed diagnosis alone. Response to treatment is not necessary to meet the listing.

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ALTERNATE NAMES

FOXG1-related Disorder; FOXG1-related encephalopathy; FOXG1-related epileptic-dyskinetic encephalopathy

DESCRIPTION

FOXG1 Syndrome is a genetic condition that severely impairs growth of the brain and body in infants. Brain malformation associated with FOXG1 Syndrome follows a distinct pattern in which the corpus callosum (the tissue that connects the right and left hemispheres) is unusually thin, along with reduced formation of brain folds and white matter.

Children affected by FOXG1 Syndrome exhibit small stature and microcephaly. The effects on the brain cause a wide array of neurological and intellectual problems, including epilepsy, sleep disturbances, feeding trouble, and behavioral issues.

The condition is caused by the mutation or complete absence of the FOXG1 gene, which is critical to brain development.

FOXG1 Syndrome was previously thought to be a variant of Rett Syndrome; however, FOXG1 Syndrome affects males and females, while Rett Syndrome is observed only in females.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A suspected diagnosis of FOXG1 Syndrome can be confirmed through genetic sequencing tests on the patient’s blood.

Physical findings: Physical signs and symptoms of FOXG1 Syndrome include:

• •

  Small stature and head size;

• •

  Seizures;

• •

  Cortical vision impairment;

• •

  Global developmental delays;

• •

  Sleep disorders; and

• •

  Involuntary movements of the extremities.

ICD-9: 330.8

ICD-10: F84.8

PROGRESSION

The developmental disabilities of FOXG1 Syndrome are debilitating from early infancy and usually do not improve. Most children with FOXG1 Syndrome never learn to walk or speak and require lifelong help performing basic tasks such as eating and using the toilet.

As FOXG1 Syndrome is a recently identified and very rare disease, conclusive data about its effect on life expectancy is not yet available.

TREATMENT

There is no cure for FOXG1 Syndrome. Treatment is supportive; lifelong care and assistance with activities of daily living are required.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment; and

• •

  Genetic sequencing tests confirming mutation of the FOXG1 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

11.17

12.05

110.08

111.02

111.17

112.02

112.05

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ALTERNATE NAMES

Metastatic Endometrioid Adenocarcinoma; Metastatic Endometrioid Carcinoma; Metastatic Uterine Adenocarcinoma; Metastatic Uterine Cancer; Metastatic Endometrioid Cancer; Metastatic Uterine Carcinoma

DESCRIPTION

Metastatic Endometrial Adenocarcinoma is a disease in which malignant cancer cells form in the tissue of the endometrial lining of the uterus and spread (metastasize) to distant parts of the body and other organs including the cervix, vagina, ovaries, lymph nodes, urinary bladder, rectum, bones, and lungs.

There are four stages of endometrial adenocarcinoma.

Stage I: The cancer is found only in the uterus or womb, and it has not spread to other parts of the body.

Stage II: The tumor has spread from the uterus to the cervical stroma but not to other parts of the body.

Stage III: The cancer has spread beyond the uterus, but it is still only in the pelvic area.

Stage IV: The cancer has metastasized to the rectum, bladder, and/or distant organs.

Endometrial cancer can recur (come back) after it has been treated. The cancer may come back in the uterus , the pelvis , in lymph nodes in the abdomen , or in other parts of the body.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis and staging of endometrial adenocarcinoma is made by:

• •

  Chest x-ray;

• •

  Computed tomography (CT) scan;

• •

  Dilation and curettage (D&C);

• •

  Endometrial biopsy;

• •

  Hysteroscopy;

• •

  Lymph node dissection;

• •

  Magnetic resonance imaging (MRI);

• •

  Pelvic exam;

• •

  Positron emission tomography (PET) scan;

• •

  Physical exam and health history; and

• •

  Transvaginal ultrasound exam.

Physical findings: The physical findings of endometrial adenocarcinoma may include:

• •

  Abnormal uterine bleeding;

• •

  Irregular menstrual bleeding, spotting, and bleeding between menstrual periods;

• •

  Abdominal or pelvic pain;

• •

  Bloating;

• •

  Feeling full quickly when eating; and

• •

  Changes in bowel or bladder habits.

ICD-9: 182.0

ICD-10: C54.1

PROGRESSION

Cancer of the endometrium is the most common gynecologic malignancy in the United States and accounts for 7% of all cancers in women. Most cases are diagnosed at an early stage and are amenable to treatment with surgery alone. However, women with pathological features predictive of a high rate of relapse and patients with extrauterine spread at diagnosis have a high rate of relapse despite adjuvant therapy. While several treatment modalities are now available to treat women who present with metastatic endometrial cancer, overall prognosis remains poor.

TREATMENT

There are five types of standard treatment for people with endometrial cancer. Surgery is the most common treatment. During surgery, the cervix and uterus are removed (total hysterectomy), as well as both ovaries and fallopian tubes (salpingo-oophorectomy). Lymph nodes and other tissue may be removed and tested to find out if they contain cancer. Staging of the cancer occurs after surgery. The other treatment modalities are:

• •

  Radiation therapy;

• •

  Chemotherapy;

• •

  Hormone therapy; and

• •

  Targeted therapy.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Imaging reports such as CT scan, MRI scan or PET scan;

• •

  Ultrasound reports; and

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.23 A 1

13.23 A 2

Listing level severity must be documented. Stage IV disease generally indicates spread beyond the regional lymph nodes.

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