PRAME Immunostaining in BAP-1-Inactivated Melanocytic Tumors: Unraveling Diagnostic Complexity and Exploring Germline Mutation Associations.

IF 1.1 4区 医学 Q4 DERMATOLOGY
American Journal of Dermatopathology Pub Date : 2025-06-01 Epub Date: 2024-11-07 DOI:10.1097/DAD.0000000000002717
Jesús Machuca-Aguado, Ana López-Prieto, Rodrigo Mora-Díaz, Álvaro Gutiérrez-Domingo, María Garrido-Ruiz, José Luis Rodríguez-Peralto, Juan José Ríos-Martín
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引用次数: 0

Abstract

Background: Cutaneous melanocytic tumors with BAP-1 inactivation (BIMTs), linked to mutations in the BAP-1 gene, present diagnostic challenges due to their morphological similarities with other melanocytic lesions. The search for reliable diagnostic markers, including PRAME, holds potential to significantly improve the accuracy of differential diagnoses.

Methods: A retrospective analysis of 32 BIMTs from 25 patients, collected between 2018 and 2022, involved histologic examination and immunostaining for BAP-1 and PRAME.

Results: Positive PRAME expression, defined as diffuse staining in at least 75% of nevic cells, was observed in 19% of cases. Variations in PRAME expression patterns were noted, particularly in biphasic lesions and those associated with germline BAP-1 mutations.

Conclusions: The diagnostic complexities of BIMTs necessitate a comprehensive diagnostic strategy. While BAP-1 immunostaining remains pivotal, this study explored PRAME as a potential adjunctive diagnostic tool. PRAME antibody shows highly variable expression in BIMTs, limiting its utility as a supportive tool for the differential diagnosis with melanomas, especially in patients with biphasic lesions and germline mutations in BAP-1.

PRAME免疫染色在bap -1失活的黑色素细胞肿瘤:揭示诊断复杂性和探索种系突变关联。
背景:伴有BAP-1失活的皮肤黑色素细胞肿瘤(BIMTs)与BAP-1基因突变有关,由于其形态与其他黑色素细胞病变相似,因此存在诊断挑战。寻找可靠的诊断标记,包括PRAME,具有显著提高鉴别诊断准确性的潜力。方法:回顾性分析2018年至2022年期间收集的25例患者的32例bimt,包括组织学检查和BAP-1和PRAME的免疫染色。结果:19%的病例观察到PRAME阳性表达,定义为至少75%的痣细胞弥漫性染色。注意到PRAME表达模式的变化,特别是在双期病变和与种系BAP-1突变相关的病变中。结论:BIMTs的诊断复杂性需要一个全面的诊断策略。虽然BAP-1免疫染色仍然是关键,但本研究探索了PRAME作为潜在的辅助诊断工具。PRAME抗体在bimt中表现出高度可变的表达,限制了其作为黑色素瘤鉴别诊断的辅助工具的效用,特别是在双期病变和BAP-1种系突变的患者中。
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来源期刊
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
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