1k likes | 2.77k Views
Renal cell carcinoma. By Dr. Abeer Elsayed Aly Lecturer of medical oncology SECI 18/3/2013. von Hippel-Lindau syndrome. Autosomal dominant Multiple cancers RCC in nearly 40% of patients
E N D
Renal cell carcinoma By Dr. Abeer Elsayed Aly Lecturer of medical oncology SECI 18/3/2013
von Hippel-Lindau syndrome Autosomal dominant Multiple cancers RCC in nearly 40% of patients del (3p) or t (3;6) or t (3;8) => VHL gene (3p26-p25) mutated => accumulation of hypoxia inducible factors (HIFs) that stimulate angiogenesis through VEGF and VEGFR
Hereditary papillary renal carcinoma AD bilateral, multifocal papillary renal carcinoma Germline missense mutations in the tyrosine kinase domain of the MET gene (7q31) => constitutive activation TFE3 mutation t(X;1)(p11;q21)
MET β-subunit of c-Met product is the cell-surface receptor for hepatocyte growth factor amplified during the transition between primary tumors and metastasis metastatic potential relies on the properties of its multifunctional docking site PRC commonly show trisomy of ch.7
Familial renal oncocytoma usually benign tumors Ultrastructural characterization exhibits dense packing of the cells with mitochondria that show morphologic differences from those in normal cells [larger, abnormally shaped] Mutation in mtDNA within the CyC oxidase subunit I gene
BIRT-HOGG-DUBE SYNDROME BHD gene 17p11.2 [TS] Adult onset male-to-male transmission
Immunotherapy • IL2 • interferon alpha
Alpha-methylacyl-CoA racemase significant increase of AMACR mRNA levels in papillary renal cell carcinomas only Also molecular marker for prostate cancer B7-H1 expression may indicate worse survival, possibly through impaired host antitumor immunity Microsatellite instabilities