Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas

Virchows Arch. 2015 Feb;466(2):217-22. doi: 10.1007/s00428-014-1685-4. Epub 2014 Nov 29.

Abstract

To determine whether IDH1 mutations are present in primary and relapsed (local and distal) conventional central chondrosarcomas; and secondly, to assess if loss of p16/CDKN2A is associated with tumour grade progression, 102 tumour samples from 37 patients, including material from presenting and relapse events, were assessed. All wild-type cases for IDH1 R132 substitutions were also tested for IDH2 R172 and R140 alterations. The primary tumour and the most recent relapse sample were tested for p16/CDKN2A by interphase fluorescence in situ hybridisation. An additional 120 central cartilaginous tumours from different patients were also tested for p16/CDKN2A copy number. The study shows that if an IDH1 mutation were detected in a primary central chondrosarcoma, it is always detected at the time of presentation, and the same mutation is detected in local recurrences and metastatic events. We show that p16/CDKN2A copy number variation occurs subsequent to the IDH1 mutation, and confirm that p16/CDKN2A copy number variation occurs in 75% of high grade central chondrosarcomas, and not in low grade cartilaginous tumours. Finally, p16/CDKN2A copy number variation is seen in both the IDH1 wild-type and mutant cartilaginous central tumours.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Bone Neoplasms / genetics*
  • Chondrosarcoma / genetics*
  • DNA Copy Number Variations*
  • Female
  • Genes, p16*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Isocitrate Dehydrogenase / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Real-Time Polymerase Chain Reaction
  • Young Adult

Substances

  • Isocitrate Dehydrogenase
  • IDH1 protein, human