Haneen T. Salah, Richard K. Yang, Sinchita Roy-Chowdhuri, Merrick I. Ross, Phyu P. Aung, Aimi T. Rothrock, Carlos A. Torres-Cabala, Jonathan L. Curry, Victor G. Prieto, Priyadharsini Nagarajan, Woo Cheal Cho
{"title":"Spitz melanocytic neoplasms with MLPH::ALK fusions: Report of two cases with previously unreported features and literature review","authors":"Haneen T. Salah, Richard K. Yang, Sinchita Roy-Chowdhuri, Merrick I. Ross, Phyu P. Aung, Aimi T. Rothrock, Carlos A. Torres-Cabala, Jonathan L. Curry, Victor G. Prieto, Priyadharsini Nagarajan, Woo Cheal Cho","doi":"10.1111/cup.14605","DOIUrl":null,"url":null,"abstract":"<p><i>ALK</i>-fused Spitz melanocytic neoplasms are a distinct subgroup of melanocytic lesions exhibiting unique histopathologic characteristics. These lesions often manifest as exophytic or polypoid tumors, characterized by fusiform-to-epithelioid melanocytes arranged in a nested, fascicular, or plexiform growth pattern. Several fusion partners of the <i>ALK</i> gene have been identified in spitzoid melanocytic neoplasms, with <i>TPM3</i> and <i>DCTN1</i> being the most prevalent. Less common fusion partners include <i>NPM1</i>, <i>TPR</i>, <i>CLIP1</i>, <i>GTF3C2</i>, <i>EEF2</i>, <i>MYO5A</i>, <i>KANK1</i>, and <i>EHBP1</i>. The <i>MLPH</i> gene, which encodes melanophilin (MLPH), playing a crucial role in regulating skin pigmentation by acting as a linker between RAB27A and myosin Va during melanosome transport, has also recently been recognized as a rare fusion partner of <i>ALK</i> in Spitz melanocytic neoplasms. Currently, there exists a sparse documentation within English literature, illustrating a limited number of cases featuring <i>MLPH::ALK</i> fusion in Spitz melanocytic neoplasms. In this report, we present two additional cases, including a previously unreported instance of Spitz melanoma, contributing to the expanding knowledge on <i>ALK</i>-fused Spitz melanocytic neoplasms. In addition, we provide a comprehensive review of the clinical, histopathologic, and molecular features observed in documented cases with this novel fusion.</p>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Cutaneous Pathology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cup.14605","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
ALK-fused Spitz melanocytic neoplasms are a distinct subgroup of melanocytic lesions exhibiting unique histopathologic characteristics. These lesions often manifest as exophytic or polypoid tumors, characterized by fusiform-to-epithelioid melanocytes arranged in a nested, fascicular, or plexiform growth pattern. Several fusion partners of the ALK gene have been identified in spitzoid melanocytic neoplasms, with TPM3 and DCTN1 being the most prevalent. Less common fusion partners include NPM1, TPR, CLIP1, GTF3C2, EEF2, MYO5A, KANK1, and EHBP1. The MLPH gene, which encodes melanophilin (MLPH), playing a crucial role in regulating skin pigmentation by acting as a linker between RAB27A and myosin Va during melanosome transport, has also recently been recognized as a rare fusion partner of ALK in Spitz melanocytic neoplasms. Currently, there exists a sparse documentation within English literature, illustrating a limited number of cases featuring MLPH::ALK fusion in Spitz melanocytic neoplasms. In this report, we present two additional cases, including a previously unreported instance of Spitz melanoma, contributing to the expanding knowledge on ALK-fused Spitz melanocytic neoplasms. In addition, we provide a comprehensive review of the clinical, histopathologic, and molecular features observed in documented cases with this novel fusion.
期刊介绍:
Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.