Mesenchymal chondrosarcoma of the head and neck with HEY1::NCOA2 fusion: A clinicopathologic and molecular study of 13 cases with emphasis on diagnostic pitfalls Journal Article
| Authors: | Xu, B.; Rooper, L. M.; Dermawan, J. K.; Zhang, Y.; Suurmeijer, A. J. H.; Dickson, B. C.; Demicco, E. G.; Antonescu, C. R. |
| Article Title: | Mesenchymal chondrosarcoma of the head and neck with HEY1::NCOA2 fusion: A clinicopathologic and molecular study of 13 cases with emphasis on diagnostic pitfalls |
| Abstract: | Background: Mesenchymal chondrosarcoma (MCS) is a rare translocation-associated sarcoma, driven by a canonical HEY1::NCOA2 fusion. The tumors typically have a biphasic phenotype of primitive small blue round cells intermixed with hyaline cartilage. The head and neck (HN) region is a common site for MCS, accounting for 12–45% of all cases reported. Aims: We assembled a relatively large cohort of 13 molecularly confirmed HN MCS for a detailed clinicopathologic analysis. The underlying fusion events were determined using fluorescence in situ hybridization and/or targeted RNA sequencing. Results: The median age of presentation was 19 years. Five MCSs (39%) had an intraosseous presentation (skull, maxilla, palate, and mandible), while the remaining eight cases occurred in the brain/meninges, orbit, and nasal cavity. Microscopically, HN MCSs were characterized by primitive round cells arranged in a distinctive nested architecture and a rich staghorn vasculature. A cartilaginous component of hyaline cartilage islands and/or single chondrocytes were present in 69% cases. A combined immunoprofile of CD99(+)/SATB2(+)/CD34(−)/STAT6(−) was typically noted. As this immunoprofile is non-specific, the referral diagnoses in cases lacking a cartilaginous component included Ewing sarcoma family and osteosarcoma. Among the seven patients with follow-up data, three developed distant metastasis and one died of disease. Conclusion: HN MCS may arise at intra- or extra-osseous sites. The HN MCS appears to have a more prolonged survival compared other MCS sites. Testing for HEY1::NCOA2 fusion is recommended in HN tumors with nested round cell morphology and staghorn vasculature that lack a distinctive cartilaginous component. © 2022 Wiley Periodicals LLC. |
| Keywords: | bone neoplasms; bone tumor; genetics; cell cycle protein; cell cycle proteins; in situ hybridization, fluorescence; basic helix-loop-helix transcription factors; pathology; fluorescence in situ hybridization; chondrosarcoma; head and neck; nuclear receptor coactivator 2; basic helix loop helix transcription factor; hey1 protein, human; mesenchymal chondrosarcoma; humans; human; hey1::ncoa2 fusion; ncoa2 protein, human; chondrosarcoma, mesenchymal |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 61 |
| Issue: | 11 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2022-11-01 |
| Start Page: | 670 |
| End Page: | 677 |
| Language: | English |
| DOI: | 10.1002/gcc.23075 |
| PUBMED: | 35672279 |
| PROVIDER: | scopus |
| PMCID: | PMC9813803 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 October 2022 -- Source: Scopus |
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