{"title":"椎旁动静脉分流合并PTEN错构瘤综合征1例报告及文献复习。","authors":"Sayaka Ito, Naoki Hatsuda","doi":"10.1007/978-3-031-89844-0_8","DOIUrl":null,"url":null,"abstract":"<p><p>Having a paraspinal arteriovenous shunt located in the paraspinal region outside the spinal canal is rare. Germline phosphatase and tensin homolog gene (PTEN) mutations have been noted in cases with a specific paraspinal arteriovenous shunt. We report a patient with a paraspinal arteriovenous shunt with multiple primary cancers and report a germline mutation diagnosed with PTEN hamartoma syndrome. PTEN hamartoma syndrome can manifest as various cancers. Early diagnosis of PTEN hamartoma syndrome is essential for improving patient prognosis and life expectancy. The coexistence of multiple primary cancers and vascular malformations can be considered red flags for PTEN hamartoma syndrome.</p>","PeriodicalId":6913,"journal":{"name":"Acta neurochirurgica. Supplement","volume":"136 ","pages":"69-71"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Paraspinal Arteriovenous Shunt Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Literature Review.\",\"authors\":\"Sayaka Ito, Naoki Hatsuda\",\"doi\":\"10.1007/978-3-031-89844-0_8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Having a paraspinal arteriovenous shunt located in the paraspinal region outside the spinal canal is rare. Germline phosphatase and tensin homolog gene (PTEN) mutations have been noted in cases with a specific paraspinal arteriovenous shunt. We report a patient with a paraspinal arteriovenous shunt with multiple primary cancers and report a germline mutation diagnosed with PTEN hamartoma syndrome. PTEN hamartoma syndrome can manifest as various cancers. Early diagnosis of PTEN hamartoma syndrome is essential for improving patient prognosis and life expectancy. The coexistence of multiple primary cancers and vascular malformations can be considered red flags for PTEN hamartoma syndrome.</p>\",\"PeriodicalId\":6913,\"journal\":{\"name\":\"Acta neurochirurgica. Supplement\",\"volume\":\"136 \",\"pages\":\"69-71\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta neurochirurgica. Supplement\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/978-3-031-89844-0_8\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neurochirurgica. Supplement","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/978-3-031-89844-0_8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
Paraspinal Arteriovenous Shunt Associated with PTEN Hamartoma Tumor Syndrome: A Case Report and Literature Review.
Having a paraspinal arteriovenous shunt located in the paraspinal region outside the spinal canal is rare. Germline phosphatase and tensin homolog gene (PTEN) mutations have been noted in cases with a specific paraspinal arteriovenous shunt. We report a patient with a paraspinal arteriovenous shunt with multiple primary cancers and report a germline mutation diagnosed with PTEN hamartoma syndrome. PTEN hamartoma syndrome can manifest as various cancers. Early diagnosis of PTEN hamartoma syndrome is essential for improving patient prognosis and life expectancy. The coexistence of multiple primary cancers and vascular malformations can be considered red flags for PTEN hamartoma syndrome.
期刊介绍:
In addition to the regular journal, "Acta Neurochirurgica" publishes 3-4 supplement volumes per year. These comprise proceedings of international meetings or other material of general neurosurgical interest.