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"PRRX1-rearranged mesenchymal tumors": expanding the immunohistochemical profile and molecular spectrum of a recently described entity with the proposed revision of nomenclature

LM. Warmke, M. Michal, P. Martínek, A. Agaimy, NU. Din, R. Perret, I. Hostein, F. Le Loarer, L. Voltaggio, JM. Gross

. 2023 ; 483 (2) : 207-214. [pub] 20230620

Jazyk angličtina Země Německo

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc23016695
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 37338620
DOI 10.1007/s00428-023-03575-w
Knihovny.cz E-zdroje

Since the publication of the 2020 World Health Organization classification of soft tissue and bone tumors, the classification of "fibroblastic" tumors has expanded to include a novel subset of tumors characterized by PRRX1::NCOA1/2 gene fusions. These tumors defy conventional classification and are morphologically distinct, characterized by a multi-nodular growth of bland spindle cells suspended in a myxo-collagenous stroma with mild cytologic atypia, "staghorn-like" vessels, and variable perivascular hyalinization. Mitotic activity is rare, and necrosis is not identified. Herein, we present six additional cases of PRRX1-rearranged mesenchymal tumors, including five cases with PRRX1::NCOA1 fusion and one case with PRRX1::KMT2D fusion. Three cases (3/6, 50%) demonstrated focal co-expression of S100 protein and SOX10, thereby expanding the immunohistochemical profile of this emerging entity. Like prior reported cases, there was no evidence of malignant behavior on short-term follow-up. The novel fusion, PRRX1::KMT2D, further expands the molecular spectrum of this entity and leads to a proposed revision of the provisional nomenclature to "PRRX1-rearranged mesenchymal tumor" to both accommodate non-NCOA1/2 fusion partners and allow for the possibility of partial neural or neuroectodermal differentiation.

Citace poskytuje Crossref.org

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