CDX1 – Mesenchymal Chondrosarcoma

The association between CDX1 (HGNC:1805) and mesenchymal chondrosarcoma (MONDO_0006853) is supported by limited evidence derived from two independent case reports. In one report, a primary renal mesenchymal chondrosarcoma was described in a 64‐year‑old patient lacking the common HEY1‑NCOA2 and IRF2BP2‑CDX1 fusions (PMID:31897203), while a separate study reported a chondrogenic tumor harboring an IRF2BP2::CDX1 fusion that was observed in tumors with overlapping features of mesenchymal chondrosarcoma (PMID:37905608). Both reports underscore the presence of somatic fusion events involving CDX1; however, detailed coding variants are not provided and there is no evidence of familial segregation.

Functional data directly linking alterations in CDX1 to the oncogenesis of mesenchymal chondrosarcoma remain sparse. In the absence of extensive functional assays or robust cohort analyses, the pathogenic contribution of CDX1 alterations is not yet firmly established. Key take‑home: although CDX1 fusions may emerge as a potential biomarker in mesenchymal chondrosarcoma, the current evidence is limited and further studies are required to validate its diagnostic utility and underlying molecular mechanisms.

References

• Oncology letters • 2020 • Primary mesenchymal chondrosarcoma of the kidney without HEY1-NCOA2 and IRF2BP2-CDX1 fusion: A case report and review PMID:31897203
• In vivo (Athens, Greece) • 2023 • Fusion of the Genes for Interferon Regulatory Factor 2 Binding Protein 2 (IRF2BP2) and Caudal Type Homeobox 1 (CDX1) in a Chondrogenic Tumor PMID:37905608

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