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A personalized medicine approach identifies enasidenib as an efficient treatment for IDH2 mutant chondrosarcoma.


ABSTRACT:

Background

Sarcomas represent an extensive group of malignant diseases affecting mesodermal tissues. Among sarcomas, the clinical management of chondrosarcomas remains a complex challenge, as high-grade tumours do not respond to current therapies. Mutations in the isocitrate dehydrogenase (IDH) 1 and 2 genes are among the most common mutations detected in chondrosarcomas and may represent a therapeutic opportunity. The presence of mutated IDH (mIDH) enzymes results in the accumulation of the oncometabolite 2-HG leading to molecular alterations that contribute to drive tumour growth.

Methods

We developed a personalized medicine strategy based on the targeted NGS/Sanger sequencing of sarcoma samples (n = 6) and the use of matched patient-derived cell lines as a drug-testing pl

SUBMITTER: Rey V 

PROVIDER: S-EPMC10990714 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature