MALIGNANT RENAL RHABDOID TUMOR

ALTERNATE NAMES

Malignant Rhabdoid Tumor of the Kidney; Malignant RT

DESCRIPTION

Malignant renal rhabdoid tumor (MRRT) is a rare malignant tumor that can develop in many types of organs and tissues, but occurs primarily in the kidney or brain. It is a highly aggressive cancer mostly affecting children. MRRTs are caused by genetic mutations in chromosome 22 and mutations in the SMARCB1/INI1 gene.

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

Diagnostic testing: The diagnosis of MRRT is made by:

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  Biopsy with histology reports;

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  Molecular genetic testing--usually chromosome microarray analysis or fluorescent in situ hybridization (FISH) test analysis documenting the 22q11.1 deletion; and

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  Imaging studies such as, chest computed tomography (CT), abdominal ultrasound.

Magnetic resonance imaging (MRI), CT, or positron emission tomography (PET) scan imagining of the brain and bone scan are warranted when evidence of metastases.

Physical findings: Individuals with MRRTs may present with signs and symptoms related to an intra-renal or large intra-abdominal mass.

Children with this tumor may present with:

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  Pain;

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  High blood pressure;

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  Hematuria;

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  Fever;

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  Synchronous or metachronous central nervous system (CNS) lesions; and

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  Metastases and secondary primary cancers.

ICD-9: 189.0

ICD-10: C79.0

PROGRESSION

MRRTs are very aggressive tumors that have a poor prognosis with mortality generally within 12 months of diagnosis. These tumors tend to occur in children under the age of 2 years.

TREATMENT

Depending on the size and location of the tumor, treatment of MRRT generally consists of surgical tumor removal, and chemotherapy. Treatment of children with malignant rhabdoid tumors will require treatment planning by a multidisciplinary team consisting of pediatric oncologists, pediatric surgeon or urologist, radiation oncologist, pediatric geneticist, social worker, or nutritionist.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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  Laboratory findings are needed to confirm the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.21

Inoperable, unresectable, metastatic, or recurrent disease in adults meets the criteria in listing 13.21.

113.03

Confirmed diagnosis of the original tumor or recurrence in children meets the criteria in listing 113.03.

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