A genetic model for central chondrosarcoma evolution correlates with patient outcome.

ABSTRACT:

Background

Central conventional chondrosarcoma (CS) is the most common subtype of primary malignant bone tumour in adults. Treatment options are usually limited to surgery, and prognosis is challenging. These tumours are characterised by the presence and absence of IDH1 and IDH2 mutations, and recently, TERT promoter alterations have been reported in around 20% of cases. The effect of these mutations on clinical outcome remains unclear. The purpose of this study was to determine if prognostic accuracy can be improved by the addition of genomic data, and specifically by examination of IDH1, IDH2, and TERT mutations.

Methods

In this study, we combined both archival samples and data sourced from the Genomics England 100,000 Genomes Project (n = 356). Mutations in IDH1, IDH2, an

SUBMITTER: Cross W 

PROVIDER: S-EPMC9426036 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature