Shea Gallus, Alexa Markl, Ben Posorske, Nishant Tiwari, Michael Kuwabara, Lisa Keller, Lindsey M Hoffman, Ross Mangum
{"title":"单发室管膜下巨细胞星形细胞瘤在没有结节性硬化症的情况下的临床意义:病例系列和综合文献综述。","authors":"Shea Gallus, Alexa Markl, Ben Posorske, Nishant Tiwari, Michael Kuwabara, Lisa Keller, Lindsey M Hoffman, Ross Mangum","doi":"10.1097/MPH.0000000000003063","DOIUrl":null,"url":null,"abstract":"<p><p>Subependymal giant cell astrocytoma (SEGA) is a slow-growing glial or glioneuronal tumor that almost exclusively occurs in patients with Tuberous Sclerosis Complex (TSC), a rare autosomal dominant condition that causes growth of benign tumors throughout the body. Herein, we present 4 cases of isolated SEGA in patients with negative germline testing for TSC alterations and present a comprehensive literature review of other cases of sporadic SEGA. This case series emphasizes the importance of considering SEGA on the differential diagnosis for periventricular tumors even in the absence of other sequelae of TSC and illustrates the importance of long-term monitoring for tuberous sclerosis-related complications.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9000,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.\",\"authors\":\"Shea Gallus, Alexa Markl, Ben Posorske, Nishant Tiwari, Michael Kuwabara, Lisa Keller, Lindsey M Hoffman, Ross Mangum\",\"doi\":\"10.1097/MPH.0000000000003063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Subependymal giant cell astrocytoma (SEGA) is a slow-growing glial or glioneuronal tumor that almost exclusively occurs in patients with Tuberous Sclerosis Complex (TSC), a rare autosomal dominant condition that causes growth of benign tumors throughout the body. Herein, we present 4 cases of isolated SEGA in patients with negative germline testing for TSC alterations and present a comprehensive literature review of other cases of sporadic SEGA. This case series emphasizes the importance of considering SEGA on the differential diagnosis for periventricular tumors even in the absence of other sequelae of TSC and illustrates the importance of long-term monitoring for tuberous sclerosis-related complications.</p>\",\"PeriodicalId\":16693,\"journal\":{\"name\":\"Journal of Pediatric Hematology/Oncology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-06-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Hematology/Oncology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MPH.0000000000003063\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Hematology/Oncology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MPH.0000000000003063","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Clinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.
Subependymal giant cell astrocytoma (SEGA) is a slow-growing glial or glioneuronal tumor that almost exclusively occurs in patients with Tuberous Sclerosis Complex (TSC), a rare autosomal dominant condition that causes growth of benign tumors throughout the body. Herein, we present 4 cases of isolated SEGA in patients with negative germline testing for TSC alterations and present a comprehensive literature review of other cases of sporadic SEGA. This case series emphasizes the importance of considering SEGA on the differential diagnosis for periventricular tumors even in the absence of other sequelae of TSC and illustrates the importance of long-term monitoring for tuberous sclerosis-related complications.
期刊介绍:
Journal of Pediatric Hematology/Oncology (JPHO) reports on major advances in the diagnosis and treatment of cancer and blood diseases in children. The journal publishes original research, commentaries, historical insights, and clinical and laboratory observations.