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RCC- Biology & Genetics

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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RCC- Biology & Genetics

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  1. RCC- Biology & Genetics

  2. 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

  3. 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

  4. VHL – molecular mechanism

  5. VHL – mechanism- cont.

  6. RCC- Pathways & Therapy

  7. Hereditary Papillary RCC (HPRC) Autosomal dominant- chromosom7q31- MET Proto-oncogene. Multifocal bilateral 40-50 y.o. Treatment- targeting C-MET XL184 and more

  8. 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

  9. HLRCC- cont.

  10. 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

  11. Birt-Hogg-Dubé – cutaneous manifestation

  12. Birt-Hogg-Dubé – pulmonary manifestation

  13. 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

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