[FH (Fumarate Hydratase)-deficient renal cell carcinoma: A case report]

Ann Pathol. 2023 Sep;43(5):417-420. doi: 10.1016/j.annpat.2023.01.014. Epub 2023 Feb 22.
[Article in French]

Abstract

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.

Keywords: Carcinome à cellules rénales; Fumarate hydratase; HLRCC; Renal cell carcinoma.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Aged
  • Carcinoma, Papillary*
  • Carcinoma, Renal Cell* / diagnosis
  • Female
  • Fumarate Hydratase / genetics
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms* / pathology
  • Leiomyomatosis* / diagnosis
  • Skin Neoplasms* / genetics
  • Uterine Neoplasms*

Substances

  • Fumarate Hydratase