Kelly Chamberlin, Gregory Chamberlin, Katherine Saunders, Simon Khagi
{"title":"下一代测序揭示了胶质母细胞瘤和脑膜瘤碰撞肿瘤的新突变。","authors":"Kelly Chamberlin, Gregory Chamberlin, Katherine Saunders, Simon Khagi","doi":"10.2217/cns-2020-0029","DOIUrl":null,"url":null,"abstract":"<p><p>Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a <i>CDKN2A</i> homozygous deletion and novel missense mutations in <i>TAF1L</i> and <i>CSMD3</i>, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.</p>","PeriodicalId":10469,"journal":{"name":"CNS Oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/43/cns-10-70.PMC8162195.pdf","citationCount":"0","resultStr":"{\"title\":\"Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma.\",\"authors\":\"Kelly Chamberlin, Gregory Chamberlin, Katherine Saunders, Simon Khagi\",\"doi\":\"10.2217/cns-2020-0029\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a <i>CDKN2A</i> homozygous deletion and novel missense mutations in <i>TAF1L</i> and <i>CSMD3</i>, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.</p>\",\"PeriodicalId\":10469,\"journal\":{\"name\":\"CNS Oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/43/cns-10-70.PMC8162195.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"CNS Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2217/cns-2020-0029\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/5/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"CNS Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/cns-2020-0029","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/5/21 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
Next-generation sequencing reveals novel mutations in a collision tumor of glioblastoma and meningioma.
Primary intracranial collision tumors are rare in patients without predisposing factors. We report such a case in a 42-year-old female who presented with headaches and altered mental status. Imaging revealed a single heterogeneous, rim-enhancing lesion in the left parieto-occipital periventricular region, involving the corpus callosum. Stereotactic biopsy demonstrated glioblastoma. Subsequent tumor resection showed histologic evidence of glioblastoma and meningioma. Next-generation sequencing was performed on both tumor components. The glioblastoma exhibited a CDKN2A homozygous deletion and novel missense mutations in TAF1L and CSMD3, while no definitive genetic alterations were identified in the meningioma. Next-generation sequencing may yield insight into molecular drivers of intracranial collision tumors and aid in identifying future therapeutic targets.