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PMID: 42087749 已发表 · aheadofprint 英语

Epithelioid Fibrous Histiocytoma with LRRFIP1::ALK Fusion and Smooth Muscle Hyperplasia.

Davenne E, Fortun A, Matthews M, Secco LP

摘要

Epithelioid fibrous histiocytoma (EFH) is a rare benign mesenchymal skin neoplasm with uncertain differentiation. In contrast to classical histiocytomas, EFH cells have a distinctive epithelioid appearance. Molecular analyses have demonstrated that EFH is biologically distinct from other histiocytomas and is associated with rearrangements in the anaplastic lymphoma kinase (ALK) gene, with various identified fusion partners. A 47-year-old man presented with a nodular cutaneous tumor on his left arm that was excised. Histopathological examination revealed a well-delimited intradermal nodule composed of non-atypical epithelioid cells associated with hyperplastic bundles of smooth muscle. Immunohistochemistry revealed diffuse ALK immunostaining in the tumor cells. Therefore, EFH was diagnosed. RNA sequencing revealed a fusion transcript consistent with LRRFIP1::ALK gene rearrangement. This is the first report of an LRRFIP1::ALK fusion in EFH. The influence of this fusion partner on the histological features of EFH remains undetermined.

关键词
ALK rearrangement LRRFIP1::ALK fusion epithelioid fibrous histiocytoma smooth muscle hyperplasia
文献信息
期刊
International journal of surgical pathology
期刊简称
Int J Surg Pathol
ISSN
1940-2465
发表日期
2026-05-06
语言
英语
国家/地区
United States
NLM ID
9314927
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