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Genetic Alterations in Renal-Cell Carcinomas

Analyzing types and subgroups

Publish date:: November 10, 2015

Type 1 and type 2 papillary renal-cell carcinomas were shown to be different types of renal cancer characterized by specific genetic alterations, with type 2 further classified into 3 individual subgroups on the basis of molecular differences associated with patient survival. This according to an integrative genomic analysis of 161 papillary renal-cell carcinoma tumors. Researchers found:

• Type 1 tumors were associated with MET alterations.

• Type 2 tumors were characterized by CDKN2A silencing, SETD2 mutations, TFE3 fusions, and increased expression of the NRF2–antioxidant response element pathway.

• A CpG island methylator phenotype was seen in a distinct subgroup of type 2 papillary renal-cell carcinomas that was characterized by poor survival and mutation of the gene encoding fumarate hydratase.

Citation: Linehan WM, Spellman PT, Ricketts CJ, et al. Comprehensive molecular characterization of papillary renal-cell carcinoma. [Published online ahead of print November 4, 2015]. NEJM. doi: 10.1056/NEJMoa1505917.

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