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Expanding the spectrum of FUS::CREM-rearranged neoplasms: a case of mesenchymal malignant tumor with neuroendocrine differentiation

  • 22.02.2025
  • BRIEF REPORT
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Abstract

We report an additional case of FUS::CREM-rearranged neoplasm, with a distinctive clinical presentation and phenotype, in order to expand the spectrum of these tumors and to underline the major issues they raise in diagnosis and classification. A 52-year male patient, with a remote history of seminoma, presented with multiple lung, pancreatic, and renal tumor nodules, containing large nests of medium-sized epithelioid, monomorphic, tumor cells, which did not express any epithelial marker, but expressed all neuroendocrine markers. S100 protein labeled sustentacular-like cells. GATA3 and Phox2B were undetectable; CD99 was strongly positive. ALK was heterogeneously expressed. Ki-67 index ranged from 5 to 15% according to the location. A FUS (exon 7)::CREM (exon 6) fusion was detected in two tumors and confirmed by FISH. This paraganglioma-like malignant neoplasm may belong to the group of FET::CREB-rearranged mesenchymal neoplasms, currently in the course of delineation, and points to its phenotypic diversity.
Titel
Expanding the spectrum of FUS::CREM-rearranged neoplasms: a case of mesenchymal malignant tumor with neuroendocrine differentiation
Verfasst von
Mohamed-Amine Bani
Voreak Suybeng
Alexander Valent
Matthieu Faron
Sophie Moog
Abir Al-Ghuzlan
Eric Baudin
Jean-Yves Scoazec
Publikationsdatum
22.02.2025
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv / Ausgabe 4/2025
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-025-04061-1
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