Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.

ABSTRACT: Chondrosarcoma is the second most frequent malignant bone tumor. However, the etiological background of chondrosarcomagenesis remains largely unknown, along with details on molecular alterations and potential therapeutic targets. Massively parallel paired-end sequencing of whole genomes of 10 primary chondrosarcomas revealed that the process of accumulation of somatic mutations is homogeneous irrespective of the pathological subtype or the presence of IDH1 mutations, is unique among a range of cancer types, and shares significant commonalities with that of prostate cancer. Clusters of structural alterations localized within a single chromosome were observed in four cases. Combined with targeted resequencing of additional cartilaginous tumor cohorts, we identified somatic alterations of the

SUBMITTER: Totoki Y 

PROVIDER: S-EPMC4158757 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature