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RREB1-MKL2 fusion in a spindle cell sinonasal sarcoma: biphenotypic sinonasal sarcoma or ectomesenchymal chondromyxoid tumor in an unusual site?

Genes, chromosomes & cancer - 1 Aug 2021

Mechtersheimer Gunhild, Andrulis Mindaugas, Delank Klaus-Wolfgang, Volckmar Anna-Lena, Zhang Lei, von Winterfeld Moritz, Stenzinger Albrecht, R Antonescu Cristina

Abstract excerpt

Biphenotypic sinonasal sarcoma (BSNS) is a rare, low grade spindle cell sarcoma, recently recognized in the WHO classification of head and neck tumors, which is characterized by a dual myogenic and neural differentiation and recurrent gene fusions, often involving PAX3-MAML3, and less commonly PAX3 fusions with other partners such as NCOA1, NCOA2, or WWTR1. Yet, in about 4% of tumors no gene rearrangements are...

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PMID: 33715240
DOI: 10.1002/gcc.22948
PMCID: PMC9336521

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