Key result
ALK molecular testing diagnoses 1 case of epithelioid fibrous histiocytoma with atypical giant cell proliferation.
Why the study?
Recent molecular studies have shown epithelioid fibrous histiocytoma is characterized by anaplastic lymphoma kinase gene rearrangements, and atypical presentations can pose a histopathologic diagnostic challenge.
Case Report (n=1)
Molecular testing for ALK rearrangements can resolve diagnostic challenges in atypical presentations of epithelioid fibrous histiocytoma.
Answers are grounded in this paper and cite their sources.
EFH with exuberant giant cells may mimic other tumors; case reports extend the morphologic spectrum but leave open definitive diagnostic criteria.
Epithelioid fibrous histiocytoma (EFH) is a rare condition historically considered a morphologic variant of benign fibrous histiocytoma. However, recent molecular studies have shown that EFH is characterized by anaplastic lymphoma kinase gene rearrangements, which are absent in benign fibrous histiocytoma. In this case report, we describe a case of EFH in a young woman, which presented a histopathologic diagnostic challenge due to an exuberant giant cell proliferation with intervening monocytic cells, a feature not typically seen in EFH. Molecular workup revealed an anaplastic lymphoma kinase rearrangement, allowing for a diagnosis of EFH to be made.
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Shvartsbeyn et al. (2026) conducted a case report in Epithelioid fibrous histiocytoma (n=1). Molecular workup for anaplastic lymphoma kinase (ALK) rearrangement was evaluated on Diagnosis of epithelioid fibrous histiocytoma. Molecular testing for anaplastic lymphoma kinase rearrangement successfully diagnosed 1 case of epithelioid fibrous histiocytoma presenting with atypical exuberant giant cell proliferation.
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