Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets

Nat Commun. 2016 Oct 7:7:13131. doi: 10.1038/ncomms13131.

Abstract

Renal cell carcinomas with unclassified histology (uRCC) constitute a significant portion of aggressive non-clear cell renal cell carcinomas that have no standard therapy. The oncogenic drivers in these tumours are unknown. Here we perform a molecular analysis of 62 high-grade primary uRCC, incorporating targeted cancer gene sequencing, RNA sequencing, single-nucleotide polymorphism array, fluorescence in situ hybridization, immunohistochemistry and cell-based assays. We identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD2 (18%), BAP1 (13%), KMT2C (10%) and MTOR (8%). Integrated analysis reveals a subset of 26% uRCC characterized by NF2 loss, dysregulated Hippo-YAP pathway and worse survival, whereas 21% uRCC with mutations of MTOR, TSC1, TSC2 or PTEN and hyperactive mTORC1 signalling are associated with better clinical outcome. FH deficiency (6%), chromatin/DNA damage regulator mutations (21%) and ALK translocation (2%) distinguish additional cases. Altogether, this study reveals distinct molecular subsets for 76% of our uRCC cohort, which could have diagnostic and therapeutic implications.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Cell Line, Tumor
  • DNA Damage / genetics*
  • HEK293 Cells
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Neoplasm Proteins / genetics*
  • Neurofibromatosis 2 / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Signal Transduction / genetics
  • TOR Serine-Threonine Kinases / genetics
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics

Substances

  • BAP1 protein, human
  • Neoplasm Proteins
  • Tumor Suppressor Proteins
  • Histone-Lysine N-Methyltransferase
  • SETD2 protein, human
  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • Ubiquitin Thiolesterase