Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

Nat Genet. 2013 Aug;45(8):923-6. doi: 10.1038/ng.2668. Epub 2013 Jun 16.

Abstract

Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 individuals with chondrosarcoma (cases). We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / genetics*
  • Bone Neoplasms / metabolism
  • Bone Neoplasms / pathology
  • Chondrosarcoma / genetics*
  • Chondrosarcoma / metabolism
  • Chondrosarcoma / pathology
  • Collagen Type II / genetics*
  • Collagen Type II / metabolism
  • Computational Biology
  • DNA Copy Number Variations
  • Databases, Genetic
  • Hedgehog Proteins / genetics
  • Hedgehog Proteins / metabolism
  • Humans
  • Mutation*
  • Neoplasm Grading
  • Polymorphism, Single Nucleotide
  • Retinoblastoma Protein / genetics
  • Retinoblastoma Protein / metabolism
  • Signal Transduction

Substances

  • COL2A1 protein, human
  • Collagen Type II
  • Hedgehog Proteins
  • Retinoblastoma Protein