Identification Number:
DI 23022 TN 47
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:All Programs
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS)
Transmittal No. 47, 08/27/2021

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

Upon Receipt

Background

This transmittal is a Quick Action Transmittal (QAT). We are not changing policy or procedures. Updates being made to these POMS section to correct misspellings, delete incorrect information, and include information that was inadvertently omitted before publication.

Summary of Changes

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

Updated heading from "List of Compassionate Allowance (CAL) Conditions" to "List of Compassionate Allowances (CAL) Conditions"

DI 23022.341 Taybi-Linder Syndrome

In "Alternate Names" section revised "Taybi-Linder Syndrome" to "Taybi-Linder Disease."

In "Diagnostic Testing" section added "and" after Skeletal dysplasia and changed ";" to "." at end of list.

DI 23022.373 Congenital Zika Syndrome

Added "CZS" to list of alternate names.

Updated language in the following sections:

  • Description,

  • Diagnostic testing,

  • Physical findings,

  • Progression, and

  • Suggested MER for Evaluation.

Revised listing in "Meets" row.

DI 23022.543 CIC-rearranged Sarcoma

Deleted "Ewing-like sarcoma" from list of alternate names.

Updated language in "Progression" section.

Deleted listings from "Equals" row.

DI 23022.080 List of Compassionate Allowances (CAL) Conditions

The following is a complete list of CAL conditions:

Section Title

Section Number

Acute Leukemia

DI 23022.085

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

DI 23022.090

Adult Non-Hodgkin Lymphoma

DI 23022.921

Adult Onset Huntington Disease

DI 23022.923

Aicardi-Goutieres Syndrome

DI 23022.665

Alexander Disease (ALX) -- Neonatal and Infantile

DI 23022.095

Allan-Herndon-Dudley Syndrome

DI 23022.925

Alobar Holoprosencephaly

DI 23022.670

Alpers Disease

DI 23022.675

Alpha Mannosidosis -- Type II and III

DI 23022.680

Alstrom Syndrome

DI 23022.350

Alveolar Soft Part Sarcoma

DI 23022.927

Amegakaryocytic Thrombocytopenia

DI 23022.355

Amyotrophic Lateral Sclerosis (ALS)

DI 23022.100

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

DI 23022.105

Angelman Syndrome

DI 23022.600

Aortic Atresia

DI 23022.540

Angiosarcoma

DI 23022.106

Aplastic Anemia

DI 23022.929

Astrocytoma -- GRADE III and IV

DI 23022.110

Ataxia Telangiectasia

DI 23022.360

Atypical Teratoid/Rhabdoid Tumor

DI 23022.111

Batten Disease

DI 23022.365

Beta Thalassemia Major

DI 23022.931

Bilateral Optic Atrophy -- Infantile

DI 23022.933

Bilateral Retinoblastoma

DI 23022.370

Bladder Cancer -- with distant metastases or inoperable or unresectable

DI 23022.115

Breast Cancer -- with distant metastases or inoperable or unresectable

DI 23022.125

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

DI 23022.127

Canavan Disease (CD)

DI 23022.130

Carcinoma of Unknown Primary Site

DI 23022.685

Cardiac Amyloidosis - AL Type

DI 23022.580

Caudal Regression Syndrome - Types III and IV

DI 23022.935

CDKL5 Deficiency Disorder

DI 23022.133

Cerebro Oculo Facio Skeletal (COFS) Syndrome

DI 23022.135

Cerebrotendinous Xanthomatosis

DI 23022.690

Charlevoix-Saguenay Spastic Ataxia

DI 23022.144

Child Neuroblastoma- - with distant metastasis or recurrent

DI 23022.695

Child Non-Hodgkin Lymphoma -- recurrent

DI 23022.700

Child T-Cell Lymphoblastic Lymphoma

DI 23022.937

Chondrosarcoma- - with multimodal therapy

DI 23022.705

Choroid Plexus Carcinoma

DI 23022.938

Chronic Idiopathic Intestinal Pseudo Obstruction

DI 23022.136

Chronic Myelogenous Leukemia -- Blast Phase

DI 23022.140

CIC-rearranged Sarcoma

DI 23022.543

Coffin-Lowry Syndrome

DI 23022.141

Congenital Lymphedema

DI 23022.939

Congenital Myotonic Dystrophy

DI 23022.143

Congenital Zika Syndrome

DI 23022.373

Cornelia de Lange Syndrome -- Classic Form

DI 23022.710

Corticobasal Degeneration

DI 23022.605

Creutzfeldt-Jakob Disease (CJD) -- Adult

DI 23022.145

Cri du Chat Syndrome

DI 23022.375

Degos Disease, Systemic

DI 23022.380

DeSanctis Cacchione Syndrome

DI 23022.941

Desmoplastic Mesothelioma

DI 23022.382

Desmoplastic Small Round Cell Tumors

DI 23022.146

Dravet Syndrome

DI 23022.943

Duchenne Muscular Dystrophy – Adult

DI 23022.940

Early-Onset Alzheimer’s Disease

DI 23022.385

Edwards Syndrome (Trisomy 18)

DI 23022.390

Eisenmenger Syndrome

DI 23022.545

Endometrial Stromal Sarcoma

DI 23022.945

Endomyocardial Fibrosis

DI 23022.550

Ependymoblastoma (Child Brain Tumor)

DI 23022.150

Erdheim Chester Disease

DI 23022.947

Esophageal Cancer

DI 23022.155

Esthesioneuroblastoma

DI 23022.156

Ewing Sarcoma

DI 23022.715

Farber’s Disease (FD) -- Infantile

DI 23022.160

Fatal Familial Insomnia

DI 23022.949

Fibrodysplasia Ossificans Progressiva

DI 23022.395

Fibrolamellar Cancer

DI 23022.163

Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

DI 23022.720

Friedreichs Ataxia (FRDA)

DI 23022.165

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

DI 23022.170

Fryns Syndrome

DI 23022.951

Fucosidosis – Type I

DI 23022.725

Fukuyama Congenital Muscular Dystrophy

DI 23022.400

Fulminant Giant Cell Myocarditis

DI 23022.953

Galactosialidosis – Early and Late Infantile Types

DI 23022.730

Gallbladder Cancer

DI 23022.175

Gaucher Disease (GD) -- Type 2

DI 23022.180

Giant Axonal Neuropathy

DI 23022.181

Glioblastoma Multiforme (Brain Tumor)

DI 23022.185

Glioma Grade III and IV

DI 23022.735

Gluteric Acidemia – Type II

DI 23022.470

GM1 - Gangliodosis - Infantile & Juvenile Forms

DI 23022.186

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

DI 23022.190

Heart Transplant Graft Failure

DI 23022.555

Heart Transplant Wait List – 1A/1B

DI 23022.560

Hemophagocytic Lymphohistiocytosis

DI 23022.405

Hepatoblastoma

DI 23022.745

Hepatopulmonary Syndrome

DI 23022.955

Hepatorenal Syndrome

DI 23022.957

Histiocytosis Syndromes

DI 23022.750

Hoyeaal-Hreidarsson Syndrome

DI 23022.191

Hutchinson-Gilford Progeria Syndrome

DI 23022.755

Hydranencephaly

DI 23022.760

Hypocomplementemic Urticarial Vasculitis Syndrome

DI 23022.765

Hypophosphatasia- Perinatal (Lethal) and Infantile Onset Types

DI 23022.770

Hypoplastic Left Heart Syndrome

DI 23022.565

I Cell Disease

DI 23022.775

Idiopathic Pulmonary Fibrosis

DI 23022.420

Infantile Free Sialic Acid Storage Disease

DI 23022.780

Infantile Neuroaxonal Dystrophy (INAD)

DI 23022.195

Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.425

Inflammatory Breast Cancer (IBC)

DI 23022.200

Intracranial Hemangiopericytoma

DI 23022.201

Jervell and Lange-Nielsen Syndrome

DI 23022.959

Joubert Syndrome

DI 23022.202

Junctional Epidermolysis Bullosa Lethal Type

DI 23022.430

Juvenile Onset Huntington Disease

DI 23022.785

Kidney Cancer -- inoperable or unresectable

DI 23022.205

Kleefstra Syndrome

DI 23022.207

Krabbe Disease (KD) -- Infantile

DI 23022.210

Kufs Disease Type A and B

DI 23022.790

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

DI 23022.215

Late Infantile Neuronal Ceroid-Lipofuscinoses

DI 23022.435

Leigh’s Disease

DI 23022.440

Leiomyosarcoma

DI 23022.961

Leptomeningeal Carcinomatosis

DI 23022.216

Lesch-Nyhan Syndrome (LNS)

DI 23022.220

Lewy Body Dementia

DI 23022.610

Liposarcoma – metastatic or recurrent

DI 23022.221

Lissencephaly

DI 23022.795

Liver Cancer

DI 23022.225

Lowe Syndrome

DI 23022.615

Lymphomatoid Granulomatosis - Grade III

DI 23022.800

Malignant Brain Stem Gliomas - Childhood

DI 23022.805

Malignant Ectomesenchymoma

DI 23022.226

Malignant Gastrointestinal Stromal Tumor

DI 23022.963

Malignant Germ Cell Tumor

DI 23022.965

Malignant Multiple Sclerosis

DI 23022.620

Malignant Renal Rhabdoid Tumor

DI 23022.227

Mantle Cell Lymphoma (MCL)

DI 23022.230

Maple Syrup Urine Disease

DI 23022.445

Marshall-Smith Syndrome

DI 23022.231

Mastocytosis - Type IV

DI 23022.815

MECP 2 Duplication Syndrome

DI 23022.967

Medulloblastoma - with metastasis

DI 23022.820

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

DI 23022.233

Megalencephaly-Capillary Malformation Syndrome

DI 23022.234

Menkes Disease - Classic or Infantile Onset Form

DI 23022.969

Merkel Cell Carcinoma - with metastasis

DI 23022.825

Merosin Deficient Congenital Muscular Dystrophy

DI 23022.450

Metachromatic Leukodystrophy - Late Infantile

DI 23022.235

Mitral Valve Atresia

DI 23022.575

Mixed Dementia

DI 23022.455

MPS I, formerly known as Hurler Syndrome

DI 23022.415

MPS II, formerly known as Hunter Syndrome

DI 23022.410

MPS III, formerly known as Sanfilippo Syndrome

DI 23022.495

Mucosal Melanoma

DI 23022.460

Multicentric Castleman Disease

DI 23022.625

Multiple System Atrophy

DI 23022.630

Myocolonic Epilepsy and Ragged Red Fibers Syndrome

DI 23022.830

Neonatal Adrenoleukodystrophy

DI 23022.465

(Neonatal) Glutaric Acidemia

DI 23022.470

Nephrogenic Systemic Fibrosis

DI 23022.835

NFU-1 Mitochondrial Disease

DI 23022.971

Nicolaides-Baraitser Syndrome

DI 23022.236

Niemann-Pick Disease (NPD) -- type A

DI 23022.240

Niemann-Pick Disease Type C

DI 23022.475

Nonketotic Hyperglycinemia

DI 23022.973

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

DI 23022.245

Obliterative Bronchiolitis

DI 23022.840

Ohtahara Syndrome

DI 23022.845

Oligodendroglioma Brain Tumor- Grade III

DI 23022.246

Ornithine Transcarbamylase (OTC) Deficiency

DI 23022.250

Orthochromatic Leukodystrophy with Pigmented Glia

DI 23022.850

Osteogenesis Imperfecta (OI) -- Type II

DI 23022.255

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

DI 23022.120

Ovarian Cancer -- with distant metastases or inoperable or unresectable

DI 23022.260

Pallister-Killian Syndrome

DI 23022.261

Pancreatic Cancer

DI 23022.265

Paraneoplastic Pemphigus

DI 23022.635

Patau Syndrome (Trisomy 13)

DI 23022.480

Pearson Syndrome

DI 23022.855

Pelizaeus-Merzbacher Disease -- Classic Form

DI 23022.860

Pelizaeus-Merzbacher Disease -- Connatal Form

DI 23022.865

Pericardial Mesothelioma

DI 23022.266

Peripheral Nerve Cancer -- metastatic or recurrent

DI 23022.870

Peritoneal Mesothelioma

DI 23022.270

Peritoneal Mucinous Carcinomatosis

DI 23022.975

Perry Syndrome

DI 23022.875

Phelan-McDermid Syndrome

DI 23022.977

Pitt Hopkins Syndrome

DI 23022.877

Pleural Mesothelioma

DI 23022.275

Pompe Disease -- Infantile

DI 23022.280

Primary Central Nervous System Lymphoma

DI 23022.640

Primary Effusion Lymphoma

DI 23022.645

Primary Peritoneal Cancer

DI 23022.483

Primary Progressive Aphasia

DI 23022.485

Progressive Bulbar Palsy

DI 23022.281

Progressive Multifocal Leukoencephalopathy

DI 23022.490

Progressive Supranuclear Palsy

DI 23022.650

Prostate Cancer- Hormone Refractory Disease— or with visceral metastases

DI 23022.282

Pulmonary Atresia

DI 23022.585

Pulmonary Kaposi Sarcoma

DI 23022.655

Refractory Hodgkin Lymphoma

DI 23022.283

Renpenning Syndrome

DI 23022.284

Retinopathy of Prematurity - Stage V

DI 23022.979

Rett (RTT) Syndrome

DI 23022.285

Revesez Syndrome

DI 23022.286

Rhabdomyosarcoma

DI 23022.880

Rhizomelic Chondrodysplasia Punctata

DI 23022.885

Richter Syndrome

DI 23022.887

Roberts Syndrome

DI 23022.981

Rubinstein-Taybi Syndrome

DI 23022.287

Salivary Tumors

DI 23022.290

Sandhoff Disease

DI 23022.295

Schindler Disease -- Type I

DI 23022.890

SCN8A-related Epilepsy with Encephalopathy

DI 23022.496

Seckel Syndrome

DI 23022.296

Secondary Adenocarcinoma of the Brain

DI 23022.298

Severe Combined Immunodeficiency - Childhood

DI 23022.983

Single Ventricle

DI 23022.590

Sinonasal Cancer

DI 23022.985

Sjogren-Larsson Syndrome

DI 23022.297

Skin Malignant Melanoma—with metastases

DI 23022.810

Small-Cell Cancer of the Large Intestine

DI 23022.300

Small-Cell Cancer of the Ovary

DI 23022.305

Small-Cell Cancer of the Prostate

DI 23022.310

Small-Cell Cancer of the Thymus

DI 23022.311

Small-Cell Cancer of the Uterus

DI 23022.315

Small-Cell Lung Cancer

DI 23022.320

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

DI 23022.325

Smith Lemli Opitz Syndrome

DI 23022.895

Soft Tissue Sarcoma – with distant metastases or recurrent

DI 23022.326

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

DI 23022.330

Spinal Nerve Root Cancer -- metastatic or recurrent

DI 23022.900

Spinocerebellar Ataxia

DI 23022.500

Stiff Person Syndrome

DI 23022.905

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

DI 23022.335

Subacute Sclerosing Panencephalitis

DI 23022.505

Superficial Siderosis of the Central Nervous System

DI 23022.337

SYNGAP1-related NSID

DI 23022.238

Tabes Dorsalis

DI 23022.910

Tay Sachs Disease

DI 23022.510

Taybi-Linder Syndrome

DI 23022.341

Tetrasomy 18p

DI 23022.343

Thanatophoric Dysplasia, Type 1

DI 23022.515

The ALS/Parkinsonism Dementia Complex

DI 23022.660

Thyroid Cancer

DI 23022.340

Transplant Coronary Artery Vasculopathy

DI 23022.987

Tricuspid Atresia

DI 23022.595

Ullrich Congenital Muscular Dystrophy

DI 23022.520

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

DI 23022.345

Usher Syndrome - Type I

DI 23022.989

Ventricular Assist Device Recipient

DI 23022.570

Walker Warburg Syndrome

DI 23022.525

Wolf-Hirschhorn Syndrome

DI 23022.915

Wolman Disease

DI 23022.530

Xeroderma Pigmentosum

DI 23022.920

X-Linked Lymphoproliferative Disease

DI 23022.346

X-Linked Myotubular Myopathy

DI 23022.347

Zellweger Syndrome

DI 23022.535

 

DI 23022.341 Taybi-Linder Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

TAYBI-LINDER SYNDROME

ALTERNATE NAMES

MOPD 1 and 3; Taybi-Linder Disease; Microcephalic Osteodysplastic Primordial Dwarfism 1 and 3

DESCRIPTION

Taybi-Linder syndrome is a rare genetic disease caused by a mutation of the gene RNU4ATAC. It is characterized by bone and central nervous system malformations, in addition to intrauterine growth retardation (IGR). Taybi-Linder syndrome has been associated with incipient diabetes, electrolytic imbalances, hypothyroidism, hypothalamic disorders, hypogonadism, cryptorchidism, micropenis, and hypospadias.

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

Diagnostic testing: Prenatal diagnosis is of the utmost importance. Therefore, fetal ultrasound screening during the second trimester of pregnancy is necessary for diagnosis.

Diagnostic testing for Taybi-Linder syndrome may also include:

  • Genetic testing for the RNU4ATAC gene; and

  • MRI or other imaging showing brain abnormality.

  • Intrauterine and post-natal growth retardation;

  • Microcephaly (abnormally small head);

  • Skeletal dysplasia; and

  • Apnea.

Physical findings: Physical findings for Taybi-Linder syndrome may include:

  • Distinct facial features including sparse hair and eyebrows, sloped forehead with protruding eyes, and a flat nasal bridge with micrognathia (small jaw);

  • Dry skin;

  • Seizures;

  • Intellectual disability; and

  • Brain abrnormalities including lissencephaly (smooth brain), hypoplastic frontal lobes, agenesis of the corpus callosum or cerebellar vermis.

ICD-9: 758.9

ICD-10: Q87.1

PROGRESSION

This syndrome is often fatal in the first year of life. With improved genetic testing, individuals have been found in later childhood and adulthood—all with significant disability.

TREATMENT

There is no curative treatment for Taybi-Linder syndrome. Facial abnormalities may require special considerations for airway management during anesthesia. Neurologic symptoms, such as seizures, can be managed medically.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Positive genetic testing documenting presence of the RNU4ATAC gene; and

  • Neuropsychological testing documenting intellectual disability.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

1.17

1.18

1.19

1.20

11.02

12.05

101.17

101.18

101.19

101.20

101.24

110.08

112.05

 

Equals

 

 

* 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.

DI 23022.373 Congenital Zika Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

CONGENITAL ZIKA SYNDROME

ALTERNATE NAMES

Zika virus disease; ZVD; CZS

DESCRIPTION

Congenital Zika syndrome (CZS) is a pattern of birth defects caused by in utero infection of the fetal brain with theZika virus.

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

Diagnostic testing:

  • Positive Zika virus NAAT (Nucleic Acid Amplification Test) and IgM in the blood and CSF of the infant within a few days after birth; and

  • Positive plaque reduction neutralization testing (PRNT) at birth.

Physical findings: The physical findings below are usually seen in Zika syndrome but may also be seen in other congenital infections of the fetal brain.

  • Severe microcephaly (abnormally small head);

  • Decreased brain tissue with a specific pattern of brain damage, including subcortical calcifications;

  • Damage to the back of the eye, including macular scarring and focal retinal pigmentary mottling;

  • Congenital contractures, such as clubfoot or arthrogryposis; and

  • Hypertonia restricting body movement soon after birth.

Other findings for CZS may include:

  • Growth retardation;

  • Progressive, irreversible intellectual disability;

  • Brain atrophy and asymmetry;

  • Abnormally formed or absent brain structures;

  • Hydrocephalus (accumulation of cerebrospinal fluid within the brain);

  • Neuronal migration disorders;

  • Excessive and redundant scalp skin;

  • Hyperreflexia (overactive or overresponsive reflexes);

  • Irritability;

  • Tremors;

  • Seizures;

  • Brainstem dysfunction;

  • Dyspagia (difficulty swallowing);

  • Chorioretinal atrophy in the macula;

  • Optic nerve hypoplasia, cupping, and atrophy;

  • Other retinal lesions;

  • Iris colobomas (holes in the iris);

  • Congenital glaucoma;

  • Microphthalmia (abnormally small eyes);

  • Lens subluxation;

  • Cataracts; and

  • Intraocular calcifications.

ICD-9: 066.3

ICD-10: A92.5

PROGRESSION

A small percentage of children born with microcephaly have normal intelligence. Most children have issues with walking, communicating, coordination, and speech issues; and need constant attention and care.

TREATMENT

There is no current treatment available for CZS. Some of the intervention programs like occupational therapy, speech assistance, and special needs help can provide some help.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Positive CZS-specific immunological testing;

  • Neuroimaging (cranial ultrasound, computed tomography, or magnetic resonance imaging) any time after birth showing microcephaly; and

  • Brainstem auditory evoked response (BAER) to document hearing impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02

111.02

112.14

 

Equals

 

 

* 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.

DI 23022.543 CIC-rearranged Sarcoma

COMPASSIONATE ALLOWANCES INFORMATION

CIC-REARRANGED SARCOMA

ALTERNATE NAMES

CIC-DUX4 Rearranged Sarcoma; CIC-DUX4 Sarcoma; Small Round-Cell Sarcoma With CIC Rearrangement

DESCRIPTION

CIC-rearranged sarcoma is a class of small round-cell tumors that fall under the Ewing sarcoma group of cancers. Although historically grouped with Ewing sarcomas, these tumors are genetically distinct and tend to be more aggressively metastatic than Ewing sarcomas on average.

The tumors tend to occur in soft tissue or visceral organs, but have been observed originating in bone in about 3% of cases. Metastasis is early and rapid, most commonly to the lungs and brain. Males are affected slightly more likely to be affected often than females.

CIC-rearranged sarcomas are so named due to a characteristic fusion in the tumor of the capicua transcriptional repressor (CIC) gene with one of several genes, most commonly the DUX4 retrogene.

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

Diagnostic testing: Preliminary testing for CIC-rearranged sarcoma includes:

  • X-rays;

  • Biopsy;

  • CT scan;

  • MRI; and

  • PET scan.

A definitive diagnosis requires genetic testing to rule out Ewing Sarcoma and other round-cell sarcomas.

Physical findings: Physical symptoms are similar to Ewing sarcoma and may include:

  • Pain and swelling at the tumor site;

  • Necrosis and hemorrhage in surrounding tissue;

  • Fever; and

  • Cyst-like growth with visible blood vessels over the tumor.

ICD-9: 171.9

ICD-10: C49.9

PROGRESSION

CIC-rearranged sarcoma develops and spreads aggressively.

CIC-rearranged tumors that have metastasized have a prognosis of less than 2 years but for localized tumors that can be fully resected, the 5-year survival is about 50%.

The survival rate is slightly higher when tumors are detected and treated in the localized (pre-metastatic) stage. Some with local disease which can be surgically fully resected.

TREATMENT

Treatment is not well defined but tends to be multimodality with surgery, radiation, and chemotherapy as applicable to each individual case. Recurrence following treatment is common, occurring in about half of cases.

Surgical resection and chemotherapy are the standard treatment options for CIC-rearranged sarcoma. Some studies have shown surgical intervention to be effective at preventing recurrence when the tumor is detected and removed prior to metastasis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

  • 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;

  • Fluorescence in situ Hybridization (FISH) test positive for presence of CIC and negative for EWSR1 (Ewing Sarcoma marker);

  • Imaging tests; and

  • Treatment records including surgical procedures and progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meet

13.04 A

13.04 B

113.03

Meeting these listings requires the presence of metastases or persistence or recurrence following initial anti-cancer therapy, which implies a poor prognosis with 5-year survival.

Equals

* 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.


DI 23022 TN 47 - Processing Quick Disability Determination (QDD) and Compassionate Allowances (CAL) in the Disability Determination Services (DDS) - 8/27/2021