{"title":"舌头上的 GLI1 变异软组织瘤--病例报告和文献综述","authors":"Jenny Lik-Ka Tse, Joshua Hoi-Yan Ng","doi":"10.1177/10668969231216986","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> Soft tissue tumors with fusions or amplifications of the <i>GLI1</i> gene have distinctive molecular characteristics and have recently been considered a unique pathological entity, thus named \"<i>GLI1</i>-altered soft tissue tumors.\" It is a rare mesenchymal neoplasm that involves soft tissues at any site. <b>Case presentation:</b> We report an example of this condition in a 13-year-old Chinese male patient who presented with a mass in the tongue. The tumor was multilobulated; the tumor cells were arranged in nests and sheets, had a rich, delicate fibrovascular network, and were separated by a hyalinized fibrous stroma. The tumor cells were epithelioid to ovoid, with variable eosinophilic to pale vacuolated cytoplasm and round to oval nuclei. Immunostaining revealed that the tumor cells were positive for CDK4 and CD56. Fluorescence in situ hybridization (FISH) for <i>GLI1</i> translocation was positive, with a high level of amplification of the translocated segment. <b>Literature review:</b> We present a comprehensive literature review of this condition, focusing on its clinical presentation, histological features, immunohistochemical profile, molecular characteristics, and prognosis.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"<i>GLI1</i>-Altered Soft Tissue Tumor in the Tongue-A Case Report and Literature Review.\",\"authors\":\"Jenny Lik-Ka Tse, Joshua Hoi-Yan Ng\",\"doi\":\"10.1177/10668969231216986\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> Soft tissue tumors with fusions or amplifications of the <i>GLI1</i> gene have distinctive molecular characteristics and have recently been considered a unique pathological entity, thus named \\\"<i>GLI1</i>-altered soft tissue tumors.\\\" It is a rare mesenchymal neoplasm that involves soft tissues at any site. <b>Case presentation:</b> We report an example of this condition in a 13-year-old Chinese male patient who presented with a mass in the tongue. The tumor was multilobulated; the tumor cells were arranged in nests and sheets, had a rich, delicate fibrovascular network, and were separated by a hyalinized fibrous stroma. The tumor cells were epithelioid to ovoid, with variable eosinophilic to pale vacuolated cytoplasm and round to oval nuclei. Immunostaining revealed that the tumor cells were positive for CDK4 and CD56. Fluorescence in situ hybridization (FISH) for <i>GLI1</i> translocation was positive, with a high level of amplification of the translocated segment. <b>Literature review:</b> We present a comprehensive literature review of this condition, focusing on its clinical presentation, histological features, immunohistochemical profile, molecular characteristics, and prognosis.</p>\",\"PeriodicalId\":14416,\"journal\":{\"name\":\"International Journal of Surgical Pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Surgical Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/10668969231216986\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/2 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Surgical Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10668969231216986","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/2 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
GLI1-Altered Soft Tissue Tumor in the Tongue-A Case Report and Literature Review.
Background: Soft tissue tumors with fusions or amplifications of the GLI1 gene have distinctive molecular characteristics and have recently been considered a unique pathological entity, thus named "GLI1-altered soft tissue tumors." It is a rare mesenchymal neoplasm that involves soft tissues at any site. Case presentation: We report an example of this condition in a 13-year-old Chinese male patient who presented with a mass in the tongue. The tumor was multilobulated; the tumor cells were arranged in nests and sheets, had a rich, delicate fibrovascular network, and were separated by a hyalinized fibrous stroma. The tumor cells were epithelioid to ovoid, with variable eosinophilic to pale vacuolated cytoplasm and round to oval nuclei. Immunostaining revealed that the tumor cells were positive for CDK4 and CD56. Fluorescence in situ hybridization (FISH) for GLI1 translocation was positive, with a high level of amplification of the translocated segment. Literature review: We present a comprehensive literature review of this condition, focusing on its clinical presentation, histological features, immunohistochemical profile, molecular characteristics, and prognosis.
期刊介绍:
International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).