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Biphenotypic sinonasal sarcoma with PAX3::MAML3 fusion transforming into high-grade rhabdomyosarcoma: report of an emerging rare phenomenon

A. Meyer, N. Klubíčková, E. Mosaieby, P. Grossmann, A. Kalmykova, O. Koshyk, M. Michal

. 2023 ; 482 (4) : 777-782. [pub] 20230131

Jazyk angličtina Země Německo

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc23010566

Grantová podpora
SVV 260539 Ministerstvo Školství, Mládeže a Tělovýchovy
Cooperatio program, SURG Ministerstvo Školství, Mládeže a Tělovýchovy

E-zdroje Online Plný text

NLK ProQuest Central od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost) od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest) od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2003-01-01 do Před 1 rokem

Odkazy

PubMed 36719455
DOI 10.1007/s00428-023-03501-0
Knihovny.cz E-zdroje

We report a case of a 67-year-old male patient with a sinonasal tumor that showed areas of classic biphenotypic sinonasal sarcoma (BSNS) which in some sections sharply transitioned into high-grade rhabdomyosarcoma. Immunohistochemically, the conventional BSNS parts showed S100 protein, SMA, PAX7, and focal MyoD1 expression, whereas desmin and myogenin were negative. In contrast, the cells in high-grade areas expressed desmin, MyoD1, myogenin, and PAX7, while being negative for S100 protein and SMA. Using the Archer FusionPlex assay, the classical PAX3::MAML3 gene fusion was detected. FISH for PAX3 and MAML3 confirmed a break of these genes in both components. Despite aggressive therapy, the tumor progression resulted in the patient's death. The herein presented case, together with 2 previously published cases of BSNS with high-grade transformation, helps to better understand this novel phenomenon. Although the risk for such transformation appears low, it has important clinical and diagnostic implications which are discussed.

Citace poskytuje Crossref.org

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