Small Cell Carcinoma of Hypercalcemic Type


D efinition A malignant rhabdoid tumor associated with hypercalcemia and mutations and inactivation in the SMARCA4 gene.

Clinical Features

Epidemiology

  • Presents between childhood and menopause, predominating in the late teens and early twenties.

  • Rarely familial, but kindreds with mutations in the SMARCA4 gene have recently been described.

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