幻灯片中的陌生人:罕见的斯皮兹黑色素细胞瘤与新型MYH9::LTK融合和常见的BRAF突变痣的碰撞,模拟黑色素瘤与先前存在的痣。

IF 1.1 4区 医学 Q4 DERMATOLOGY
Puk R Meijs-Hermanns, Juliette M J Spitzer-Naaijkens, Lennart A Kester, Anne M L Jansen, Willeke A M Blokx
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引用次数: 0

摘要

摘要:在本病例报告中,我们报告了一例罕见的碰撞肿瘤,由Spitz黑色素细胞瘤与新型MYH9::LTK融合和BRAFV600E突变的普通真皮痣组成。仅根据形态学,病变很容易被误诊为黑色素瘤和先前存在的痣。然而,只有普通真皮痣免疫组化分析显示BRAFV600E表达,提示碰撞瘤的可能性,为进一步的分子分析提供指导。尽管MYH9::LTK融合先前未在Spitz肿瘤中被描述,但我们根据上皮样形态和激酶融合驱动因素将该病变分类为Spitz。由于存在真皮有丝分裂活性和杂合性CDKN2A缺失,我们将该病变标记为Spitz黑色素细胞瘤,并与不相关的BRAFV600E突变真皮痣相关。该病例强调了进行免疫组织化学的相关性,如果需要额外的分子分析,以确认非典型黑素细胞病变的谱系和尊严,其中Spitz肿瘤是诊断考虑,以防止误诊。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Stranger in the Slide: A Rare Collision of a Spitz Melanocytoma With a Novel MYH9::LTK Fusion and a Common BRAF Mutated Nevus Mimicking a Melanoma With a Preexistent Nevus.

Abstract: In this case report, we present a rare collision tumor consisting of a Spitz melanocytoma with a novel MYH9::LTK fusion, and a BRAFV600E mutated common dermal nevus in a 25-year-old man. Based on morphology alone, the lesion could easily have been misdiagnosed as a melanoma with a preexisting nevus. However, only the common dermal nevus showed BRAFV600E expression on immunohistochemical analysis, pointing toward the possibility of a collision tumor and guiding further molecular analyses. Although MYH9::LTK fusions have not been previously described in Spitz tumors, we classified this lesion as Spitz based on the epithelioid morphology and kinase fusion driver. Because there was dermal mitotic activity and heterozygous CDKN2A loss, we signed this lesion out as Spitz melanocytoma, in association with an unrelated BRAFV600E mutated dermal nevus. This case underscores the relevance of performing immunohistochemistry and if needed additional molecular analyses to confirm the lineage and dignity of an atypical melanocytic lesion, in which a Spitz tumor is a diagnostic consideration, to prevent misdiagnosis.

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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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