LMNA::NTRK1 and PRDX1::NTRK1 Atypical Spitz Tumor: A Report of Two Additional Cases With Histological, Immunohistochemical, and Molecular Insights.

IF 1.1 4区 医学 Q4 DERMATOLOGY
American Journal of Dermatopathology Pub Date : 2025-01-01 Epub Date: 2024-10-15 DOI:10.1097/DAD.0000000000002865
Gerardo Cazzato, Anna Colagrande, Leonardo Resta, Irma Trilli, Carmelo Lupo, Giuseppe Ingravallo, Concetta Caporusso, Isabella Giovannoni, Sabina Barresi
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引用次数: 0

Abstract

Abstract: Over the past decade, advancements in molecular biology have contributed to changes in the diagnostic classification of Spitz neoplasms, including Spitz nevi, atypical Spitz tumors, and Spitz melanomas. The recent World Health Organization classification of skin tumors identifies fusion kinases, including NTRK1, NTRK2, and NTRK3, as critical drivers of these lesions. New fusion genes have continued to expand the spectrum of known molecular alterations, particularly within the category of Spitz NTRK-rearranged lesions. We present 2 new cases of NTRK-rearranged Spitz lesions: an atypical Spitz tumor with common LMNA::NTRK1 fusion and an atypical Spitz tumor with a rare PRDX1::NTRK1 fusion. Clinical, histopathological, immunohistochemical, and molecular analyses were performed to diagnose these patients. This report adds to the growing body of knowledge on NTRK-rearranged Spitz lesions and underscores the importance of integrating molecular findings with morphological and immunohistochemical data for the accurate classification and understanding of these neoplasms.

LMNA::NTRK1 和 PRDX1::NTRK1 非典型斯皮茨瘤:新增两例病例的组织学、免疫组化和分子见解报告。
摘要:在过去十年中,分子生物学的进步促进了斯皮茨瘤诊断分类的变化,包括斯皮茨痣、非典型斯皮茨瘤和斯皮茨黑色素瘤。世界卫生组织最近的皮肤肿瘤分类将融合激酶(包括 NTRK1、NTRK2 和 NTRK3)确定为这些病变的关键驱动因素。新的融合基因不断扩大已知分子改变的范围,尤其是在斯皮茨 NTRK 重排病变类别中。我们报告了 2 例新的 NTRK 重排 Spitz 病变:一例非典型 Spitz 肿瘤伴有常见的 LMNA::NTRK1 融合,另一例非典型 Spitz 肿瘤伴有罕见的 PRDX1::NTRK1 融合。对这些患者进行了临床、组织病理学、免疫组化和分子分析诊断。该报告丰富了人们对 NTRK 重排 Spitz 病变的认识,并强调了将分子研究结果与形态学和免疫组化数据相结合对准确分类和了解这些肿瘤的重要性。
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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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