Warmke LM, Michal M, Martínek P, Agaimy A, Din NU, Perret R, Hostein I, Le Loarer F, Voltaggio L, Gross JM (2023)
Publication Type: Journal article
Publication year: 2023
DOI: 10.1007/s00428-023-03575-w
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.
APA:
Warmke, L.M., Michal, M., Martínek, P., Agaimy, A., Din, N.U., Perret, R.,... Gross, J.M. (2023). “PRRX1-rearranged mesenchymal tumors”: expanding the immunohistochemical profile and molecular spectrum of a recently described entity with the proposed revision of nomenclature. Virchows Archiv. https://doi.org/10.1007/s00428-023-03575-w
MLA:
Warmke, Laura M., et al. "“PRRX1-rearranged mesenchymal tumors”: expanding the immunohistochemical profile and molecular spectrum of a recently described entity with the proposed revision of nomenclature." Virchows Archiv (2023).
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