Introduction
- Chondrosarcomas (CSAs) are a heterogeneous group of malignant neoplasms that arise within or on the surface of bone.
- IDH1/2, COL2A1, and TP53are the most commonly mutated genes in conventional chondrosarcomas (CCSA) and dedifferentiated chondrosarcomas (DCSA).
- One case of grade 2 CCSA with standalone BCOR mutation and aggressive clinical behavior was the impetus for this study.
- Mutations in BCOR are frequently acquired in other IDH driven neoplasms and it is unclear if they contribute to IDH inhibitor resistance.
- Recently, TP53 mutations in CSA were shown to be associated with worse clinical outcome.
- Mutations of BCL-6 transcriptional corepressor (BCOR) gene have been rarely described in CCSA or DCSA; the goal of this study is to describe the clinicopathological features of BCOR-mutated CSA.