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Molecular Characterization of Papillary Renal-Cell Carcinoma

Studying clinical and biological differences

Type 1 and type 2 papillary renal-cell carcinomas are clinically and biologically distinct, according to comprehensive molecular characterization of 161 primary papillary renal-cell carcinomas. Researchers found:

  • Type 1 and type 2 papillary renal-cell carcinomas are 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.
  • Type 1 tumors are associated with MET alterations.
  • Type 2 tumors are 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 is characterized by poor survival and mutation of the gene encoding fumarate hydratase.

Citation: The Cancer Genome Atlas Research Network. Comprehensive molecular characterization of papillary renal-cell carcinoma. N Engl J Med. 2016; 374:135-145. doi: 10.1056/NEJMoa1505917.