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RCC- Biology & Genetics. Epidemiology. Renal cancer is the 7th leading malignant condition among men and the 12th among women Associated with inherited syndromes Renal-cell carcinomas arise from the renal epithelium and account for about 85 percent of renal cancers.
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Epidemiology • Renal cancer is the 7th leading malignant condition among men and the 12th among women • Associated with inherited syndromes • Renal-cell carcinomas arise from the renal epithelium and account for about 85 percent of renal cancers
Von-Hippel-Lindau (VHL) - Clinical Bilateral renal cysts and renal cell carcinoma (renal) Hemangioblastomas (cerebellum, spine) Endolymphatic sac tumors (middle ear) Angiomas (retina) Islet cell tumors (pancreas) Pheochromocytoma (adrenal) Cystadenoma (epididymis) Retina cerebellum renal
Hereditary Papillary RCC (HPRC) Autosomal dominant- chromosom7q31- MET Proto-oncogene. Multifocal bilateral 40-50 y.o. Treatment- targeting C-MET XL184 and more
Hereditary Leyomyomatosis RCC (HLRCC) Autosomal dominant (germline mutation in fumarate hydratase gene – 1q42) Clinical manifestations : Multiple cutaneous and uterine leiomyomas 50% of women undergo hysterectomy before age 30 Rarely leiomyosarcoma Solitary type II papillary RCC 1/3 patients aggressive REF : Grubb et al, J Urol 2007
Birt-Hogg-Dubé Autosomal dominant (germline mutation in folliculin gene – 17p11.2 – function unknown) Clinical manifestations : Fibrofolliculomas (skin) Pulmonary cysts pneumothorax Renal tumors : chromophobe, oncocytoma Pavlovich et al, J Urol 2005
Suspect hereditary RCC in case of family history, multiple / bilateral lesions or young age at presentation… Additional history to elicit in suspected RCC : Prior spontaneous pneumothorax Uterine fibroids at young age Loss of vision Prior brain tumors Physical examination : skin, eye