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Clear Cell Chondrosarcoma With Somatic VHL Inactivation: A Case Report With Integrated Genomic and Transcriptomic Analysis
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DOI:10.1002/gcc.70130.png)
Abstract
En 中文
Clear cell chondrosarcoma (CCC) is a rare, low-grade malignant bone tumor and a specific subtype of chondrosarcoma. In contrast to conventional central chondrosarcoma, which often exhibits recurrent IDH1/2 mutations, CCC is IDH-wildtype, and its genomic profile remains uncharacterized. Sporadic cases have been described in association with von Hippel–Lindau (VHL) disease, but somatic VHL alterations have not been demonstrated in this tumor.
Keywords:
clear cell chondrosarcoma
COL2A1
genomic profiling
IDH1/2
VHL
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