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伴有罕见PPFIBP1-ALK融合的上皮样纤维组织细胞瘤(EFH):黏液样梭形细胞EFH新谱系中的一种主要为梭形细胞的变体

Epithelioid Fibrous Histiocytoma (EFH) With Rare PPFIBP1-ALK Fusion: A Predominantly Spindle Cell Variant Within the Emerging Spectrum of Myxoid Spindle Cell EFH.

作者信息

Oldham Eli P, Bobkova Svetlana, Loykasek Patti, Roberts Jennifer, Shendrik Igor

机构信息

Office of Medical Student Research, Oklahoma State University Center for Health Sciences, Tulsa, USA.

National Center for Wellness and Recovery, Oklahoma State University Center for Health Sciences, Tulsa, USA.

出版信息

Cureus. 2025 Jun 19;17(6):e86361. doi: 10.7759/cureus.86361. eCollection 2025 Jun.

DOI:10.7759/cureus.86361
PMID:40688914
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12276020/
Abstract

Epithelioid fibrous histiocytoma (EFH) is a benign fibrohistiocytic neoplasm characterized by morphologic heterogeneity and recurrent anaplastic lymphoma kinase () gene rearrangements. We present a rare case of EFH located on the lateral neck of a 56-year-old male patient, demonstrating a predominantly spindle cell morphology. Immunohistochemical analysis revealed granular cytoplasmic positivity for ALK, along with expression of CD68, CD4, epithelial membrane antigen, caldesmon, and smooth muscle actin. Next-generation sequencing confirmed the presence of a rare fusion. The presented case highlights a predominantly spindle cell variant of EFH and suggests inclusion within the recently described myxoid spindle cell EFH spectrum, which encompasses the superficial ALK-rearranged myxoid spindle cell neoplasms (SAMS).

摘要

上皮样纤维组织细胞瘤(EFH)是一种良性纤维组织细胞肿瘤,其特征为形态学异质性和间变性淋巴瘤激酶(ALK)基因重排复发。我们报告一例罕见的位于56岁男性患者侧颈部的EFH,主要表现为梭形细胞形态。免疫组化分析显示ALK呈颗粒状胞质阳性,同时表达CD68、CD4、上皮膜抗原、钙调蛋白和平滑肌肌动蛋白。二代测序证实存在罕见的 融合。该病例突出了EFH的主要梭形细胞变体,并提示应纳入最近描述的黏液样梭形细胞EFH谱系,该谱系包括浅表ALK重排的黏液样梭形细胞肿瘤(SAMS)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/06053092d4e9/cureus-0017-00000086361-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/c404e7f3e91b/cureus-0017-00000086361-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/524b3e2a88f9/cureus-0017-00000086361-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/d3b9efdaf6ea/cureus-0017-00000086361-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/06053092d4e9/cureus-0017-00000086361-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/c404e7f3e91b/cureus-0017-00000086361-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/524b3e2a88f9/cureus-0017-00000086361-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/d3b9efdaf6ea/cureus-0017-00000086361-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2624/12276020/06053092d4e9/cureus-0017-00000086361-i04.jpg

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本文引用的文献

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2
Epithelioid fibrous histiocytoma: three diagnostically challenging cases with novel ALK gene fusions, unusual storiform growth pattern, and a prominent spindled morphology.上皮样纤维组织细胞瘤:三例具有新型 ALK 基因融合、不典型的席纹状生长模式和显著梭形形态的诊断极具挑战性的病例。
Virchows Arch. 2022 Nov;481(5):751-757. doi: 10.1007/s00428-022-03418-0. Epub 2022 Sep 29.
3
Analyzing the morphological spectrum of epithelioid fibrous histiocytoma and the immunohistochemical performance of the ALK D5F3 and ALK1 clones.分析上皮样纤维组织细胞瘤的形态谱和 ALK D5F3 和 ALK1 克隆的免疫组织化学表现。
Hum Pathol. 2022 Feb;120:46-56. doi: 10.1016/j.humpath.2021.12.004. Epub 2021 Dec 17.
4
Superficial ALK-rearranged myxoid spindle cell neoplasm: a cutaneous soft tissue tumor with distinctive morphology and immunophenotypic profile.浅表性间变性淋巴瘤激酶重排黏液样梭形细胞肿瘤:一种具有独特形态学和免疫表型特征的皮肤软组织肿瘤。
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