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FH (Fumarate Hydratase)-deficient renal cell carcinoma: A case report. Carcinome à cellules rénales FH (fumarate hydratase)-déficient : à propos d’un cas

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Allaume, P | Kammerer-Jacquet, S.-F. | Papadopoulos, Stephanos | Rioux-Leclercq, Nathalie

Edité par CCSD ; Elsevier Masson -

National audience. Fumarate hydratase deficient renal cell carcinoma (FH-RCC) is a rare malignant neoplasia caused by constitutive or somatic mutations in the FH gene whose diagnosis is primordial, requiring genetic counselling. Because of histological heterogeneity, such tumors have been in the past misclassified as "type 2 papillary carcinoma", "tubulo-cystic renal cell carcinoma" or "high grade papillary carcinoma". We report here a case of FH deficient renal cell carcinoma (FH-RCC) in a 69years old patient. Through this observation, we precise the epidemiological and histological aspects and diagnosis criteria of this rare tumor.

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