Kidney Medullary Carcinoma; Medullary Carcinoma of the Kidney; Medullary Renal Cell Carcinoma; RCCU-MP; Renal Cell Carcinoma, Unclassified, with Medullary Phenotype; RMC

Renal medullary carcinoma (RMC) is a rare but aggressive type of kidney cancer. It’s a very rare subclass of renal cancer that is largely restricted to patients who carry the sickle cell trait, sickle cell disease, or other sickle hemoglobinopathies that can cause sickling of the red blood cells. Generally, about 80 percent of cases have metastatic disease present at diagnosis. Patients without initial metastatic disease almost universally develop metastatic spread. RMC cells lack a protein called INI1 or SMARCB1. This protein is a tumor suppressor and normally helps prevent cells from becoming cancerous.

RMC develops in the innermost part of the kidney (medulla). Its main function is to maintain the blood’s water and salt balance.

Diagnostic testing: Diagnostic testing for RMC may include:

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  Physical exam and history;

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  Blood chemistry studies;

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  Urinalysis;

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  Liver function tests;

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  Ultrasound exam;

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  Computed tomography (CT) scan;

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  Magnetic resonance imaging (MRI); and

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  Biopsy.

Physical findings: Symptoms of RMC include:

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  Blood in urine;

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  Flank pain;

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  Loss of appetite;

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  Unexplained weight loss;

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  Fever;

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  Night sweats;

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  Abdominal mass;

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  Low red blood cell count; and

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  Swelling in the lower body.

ICD-9: 189.0

ICD-10: C64.9; C7A.093

The prognosis for people with RMC is dismal with a current median overall survival of about 13 months. Generally, by the time most people are diagnosed, the cancer has spread to the lymph nodes or other organs. The survival rate is within 2 years regardless of treatment and therapy.

Due to the rarity of the disease, there is no standard of care for RMC. Many of the therapies that are used for other kidney cancers do not work against RMC. Initial chemotherapy is most commonly employed with subsequent consideration for surgery or additional chemotherapy. Other specific therapeutic procedures may include radiation therapy or other therapies.

Suggested MER for Evaluation:

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  Clinical history and physical examination;

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

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  Biopsy to determine if the SMARCB1 gene is present or nonexistent.

Suggested Listings for Evaluation:

REMARKS

Metastatic disease is typically present at diagnosis and should be evaluated under listing 13.21 B.