眼睑肌上皮肿瘤包含一种新的HAS2::PLAG1融合和异常ALK表达：1例报告。

IF 1 4区医学 Q4 DERMATOLOGY

American Journal of Dermatopathology Pub Date : 2025-09-12 DOI:10.1097/DAD.0000000000003128

Francesco Fortarezza, Tito Brambullo, Gerardo Cazzato, Franco Bassetto, Angelo Paolo Dei Tos

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引用次数: 0

摘要

摘要：我们报告了一例50岁女性眼睑肿瘤伴肌上皮分化的例外病例，这是在该解剖位置记录的第一例HAS2::PLAG1基因融合。尽管分子分析未发现ALK基因重排，但肿瘤表现出梭形细胞和上皮样细胞成分的双相形态，并表现出ALK蛋白的异常免疫组织化学表达。该病例强调了综合分子诊断在解决免疫表型歧义和准确分类罕见附件肿瘤中的重要性。

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Myoepithelial Neoplasm of the Eyelid Harboring a Novel HAS2::PLAG1 Fusion and Aberrant ALK Expression: A Case Report.

Abstract: We report an exceptional case of a neoplasm with myoepithelial differentiation arising in the eyelid of a 50-year-old woman, representing the first documented instance of a HAS2::PLAG1 gene fusion in this anatomical location. The tumor exhibited a biphasic morphology with both spindle and epithelioid cell components and demonstrated aberrant immunohistochemical expression of ALK protein, although molecular analysis did not reveal any ALK gene rearrangements. This case underscores the importance of comprehensive molecular diagnostics in resolving immunophenotypic ambiguities and accurately classifying rare adnexal tumors.

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来源期刊

American Journal of Dermatopathology 医学-皮肤病学

CiteScore

1.80

自引率

9.10%

发文量

453

审稿时长

3 months

期刊介绍： The American Journal of Dermatopathology offers outstanding coverage of the latest diagnostic approaches and laboratory techniques, as well as insights into contemporary social, legal, and ethical concerns. Each issue features review articles on clinical, technical, and basic science advances and illuminating, detailed case reports. With the The American Journal of Dermatopathology you''ll be able to: -Incorporate step-by-step coverage of new or difficult-to-diagnose conditions from their earliest histopathologic signs to confirmatory immunohistochemical and molecular studies. -Apply the latest basic science findings and clinical approaches to your work right away. -Tap into the skills and expertise of your peers and colleagues the world over peer-reviewed original articles, "Extraordinary cases reports", coverage of practical guidelines, and graphic presentations. -Expand your horizons through the Journal''s idea-generating forum for debating controversial issues and learning from preeminent researchers and clinicians