"for patients with proven FH gene mutations lifetime screening for renal cell carcinoma is recommended due to estimated lifetime risk of 15-21%."
"Fumarate hydratase-deficient renal cell carcinoma was newly defined in the WHO classification of urogenital tumours (5th edition, 2022) and included in the new category of molecularly defined RCC (previously categorised as HLRCC syndrome-associated RCC)."
"Fumarate hydratase-deficient renal cell carcinoma was newly defined in the WHO classification of urogenital tumours (5th edition, 2022) and included in the new category of molecularly defined RCC (previously categorised as HLRCC syndrome-associated RCC)."
"On histopathology, it resembles papillary renal cell carcinoma type 2 (and therefore has often been misclassified into this group in the past). In order to establish the correct diagnosis, immunostaining for S-(2-succinyl) cysteine (2SC) and negativity for FH, CK7, and AMACR expression is required, and even gene sequencing may be necessary 3."
"T2 inhomogeneity, heterogenous tumour enhancement and diffusion restriction of solid component"
"Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a very rare type of renal cell carcinoma (RCC). It can be part of the hereditary leiomyomatosis and RCC (HLRCC) syndrome (germline mutation) or it can be sporadic (somatic mutation). As opposed to conventional RCC, it affects younger individuals mostly in their forties and carries a poorer prognosis, since it tends to metastasise early even with small tumour size."
"FH-RCC is due to an inactivating mutation of the fumarate hydratase (FH) gene (located on the long arm of chromosome 1). There are cases due to a somatic mutation and others due to a germline mutation of the FH gene, in which the renal cell carcinoma is part of the autosomal-dominant hereditary leiomyomatosis and RCC (HLRCC) syndrome."