BACKGROUND: Whole-genome sequencing studies have recently shown that @entity421 ( @entity421 ) display high rates of structural variation, i.e. they contain many somatic mutations and copy number alterations. @entity876 and @entity996 show recurrent somatic alterations in concordant studies, suggesting that they could be key players in bone oncogenesis. @entity1 AND METHODS: we carried out whole-genome sequencing of DNA from seven high-grade @entity3012 samples matched with normal tissue from the same @entity1 . RESULTS: We confirmed the presence of genetic alterations of the @entity876 (including novel unreported mutations) and @entity996 genes. Most interestingly, we identified a total of 84 point mutations and 4 deletions related to 82 different genes in @entity3012 samples, of which only 15 have been previously reported. Interestingly, the number of mutated genes (ranging from 4 to 8) was lower in @entity876 mut cases compared with @entity876 wt cases (ranging from 14 to 45). This was also true for the mutated @entity996 case. We also observed that a dedifferentiated @entity3012 harboring @entity7465 amplification did not carry any other mutations. CONCLUSION: This study suggests that bone oncogenesis driven by @entity876 or @entity996 mutations occurs on a background of relative genetic stability and that the dedifferentiated @entity3012 subtype represents a clinico-pathological entity with distinct oncogenic mechanisms and thus requires different therapeutic management.

Whole-exome sequencing in XXXX reveals important heterogeneity of genetic alterations.

@entity1 :: ('9606', 'Species') :: ['patients', 'PATIENTS'] @entity3012 :: ('MESH:C567932', 'Disease') :: ['OS'] @entity7465 :: ('4193', 'Gene') :: ['MDM2'] @entity996 :: ('5925', 'Gene') :: ['RB1'] @entity876 :: ('7157', 'Gene') :: ['TP53'] @entity421 :: ('MESH:D012516', 'Disease') :: ['OSs', 'osteosarcomas']
@entity421 :: (MESH:D012516,Disease) :: ['osteosarcoma']
