Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm.

IF 1.1 4区 医学 Q4 DERMATOLOGY American Journal of Dermatopathology Pub Date : 2024-10-01 Epub Date: 2024-06-28 DOI:10.1097/DAD.0000000000002778
Woo Cheal Cho, Victor G Prieto, Richard K Yang
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Abstract

Abstract: Spitz melanocytic neoplasms exhibit frequent chromosomal rearrangements leading to recurring gene fusions, such as ALK fusions. TPM3 and DCTN1 emerge as the predominant fusion partners of ALK , although less common partners such as NPM1 , TPR , CLIP1 , GTF3C2 , MLPH , EEF2 , MYO5A , and KANK1 have also been documented. Although ALK fusions are primarily associated with Spitz nevi or atypical Spitz tumors, instances of Spitz melanoma with ALK fusions documented in the English literature are exceedingly rare. Here, we present a case of Spitz melanoma harboring SLC20A1::ALK fusion, highlighting a novel fusion transcript not previously reported in Spitz melanocytic neoplasms, including Spitz melanomas. In addition, the tumor exhibits multiple aberrant chromosomal alterations characteristic of melanoma, along with a somatic mutation in GRM3 .

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SLC20A1::ALK融合的Spitz黑色素瘤:斯皮兹黑素细胞瘤中一种以前未曾描述过的新型融合。
摘要:Spitz 黑素细胞瘤表现出频繁的染色体重排,导致反复出现基因融合,如 ALK 融合。TPM3和DCTN1是ALK的主要融合伙伴,但也有一些不常见的融合伙伴,如NPM1、TPR、CLIP1、GTF3C2、MLPH、EEF2、MYO5A和KANK1。虽然ALK融合主要与Spitz痣或非典型性Spitz肿瘤有关,但英文文献中记载的Spitz黑色素瘤伴有ALK融合的病例却极为罕见。在此,我们介绍了一例携带SLC20A1::ALK融合的Spitz黑色素瘤病例,该病例突显了一种新的融合转录本,而这种新的融合转录本以前从未在Spitz黑色素细胞肿瘤(包括Spitz黑色素瘤)中报道过。此外,该肿瘤还表现出黑色素瘤特有的多种染色体异常改变,以及 GRM3 的体细胞突变。
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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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