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SMARCB1-deficient kidney medullary carcinoma

A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.

Therapeutic area: Oncology
Rarity: Unknown
Prevalence: —
MONDO: MONDO:0100534

Overview

A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.

Content last reviewed: 2026-06