{"title":"激活ZKSCAN1::MET激酶融合的先天性Spitz黑色素细胞瘤","authors":"Tzah Feldman, Hiba Zaaroura, Hanaa Haj Abaya, Yaniv Zohar, Reuven Bergman","doi":"10.1111/cup.14846","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>Congenital Spitz nevi have been rarely reported, and the diagnoses were usually based on the histopathological and immunohistochemical findings. We describe a case of a congenital Spitz tumor in which the molecular studies demonstrated a <i>ZKSCAN1::MET</i> fusion. No other somatic mutations and/or copy number variations outside of the <i>MET</i> gene were identified. Activating MET kinase rearrangements were previously reported only in a few cases of atypical Spitz tumors and spitzoid melanomas. Specifically, the <i>ZKSCAN1::MET</i> fusion was previously described in a single case of spitzoid melanoma demonstrating an uneventful course. Altogether, the histopathological, immunohistochemical, and molecular studies in our case supported a diagnosis of a congenital Spitz melanocytoma. This underscores the value of molecular analyses in Spitz tumors.</p>\n </div>","PeriodicalId":15407,"journal":{"name":"Journal of Cutaneous Pathology","volume":"52 10","pages":"617-621"},"PeriodicalIF":1.1000,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital Spitz Melanocytoma With Activating ZKSCAN1::MET Kinase Fusion\",\"authors\":\"Tzah Feldman, Hiba Zaaroura, Hanaa Haj Abaya, Yaniv Zohar, Reuven Bergman\",\"doi\":\"10.1111/cup.14846\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n <p>Congenital Spitz nevi have been rarely reported, and the diagnoses were usually based on the histopathological and immunohistochemical findings. We describe a case of a congenital Spitz tumor in which the molecular studies demonstrated a <i>ZKSCAN1::MET</i> fusion. No other somatic mutations and/or copy number variations outside of the <i>MET</i> gene were identified. Activating MET kinase rearrangements were previously reported only in a few cases of atypical Spitz tumors and spitzoid melanomas. Specifically, the <i>ZKSCAN1::MET</i> fusion was previously described in a single case of spitzoid melanoma demonstrating an uneventful course. Altogether, the histopathological, immunohistochemical, and molecular studies in our case supported a diagnosis of a congenital Spitz melanocytoma. This underscores the value of molecular analyses in Spitz tumors.</p>\\n </div>\",\"PeriodicalId\":15407,\"journal\":{\"name\":\"Journal of Cutaneous Pathology\",\"volume\":\"52 10\",\"pages\":\"617-621\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2025-07-15\",\"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.14846\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Cutaneous Pathology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cup.14846","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
Congenital Spitz Melanocytoma With Activating ZKSCAN1::MET Kinase Fusion
Congenital Spitz nevi have been rarely reported, and the diagnoses were usually based on the histopathological and immunohistochemical findings. We describe a case of a congenital Spitz tumor in which the molecular studies demonstrated a ZKSCAN1::MET fusion. No other somatic mutations and/or copy number variations outside of the MET gene were identified. Activating MET kinase rearrangements were previously reported only in a few cases of atypical Spitz tumors and spitzoid melanomas. Specifically, the ZKSCAN1::MET fusion was previously described in a single case of spitzoid melanoma demonstrating an uneventful course. Altogether, the histopathological, immunohistochemical, and molecular studies in our case supported a diagnosis of a congenital Spitz melanocytoma. This underscores the value of molecular analyses in Spitz tumors.
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.