BCOR AND TP53-MUTATED CONVENTIONAL AND DEDIFFERENTIATED CHONDROSARCOMA: A CLINICOPATHOLOGIC STUDY

Authors:

Diego Montoya Cerrillo MD1, Fireneh Beshah MD1, Renzo Calderon Anyosa MD PhD2, Andrew Elliott PhD3, Mark G. Evans MD3, Jaylou Velez Torres MD1, Elizabeth A. Montgomery MD1, Andrew E. Rosenberg MD1

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.
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