Patient with Diffuse Midline Glioma, H3 K27-altered, Carrying an FGFR1 Mutation Who Experienced Thalamic Hemorrhage: A Case Report and Literature Review.
{"title":"Patient with Diffuse Midline Glioma, H3 K27-altered, Carrying an <i>FGFR1</i> Mutation Who Experienced Thalamic Hemorrhage: A Case Report and Literature Review.","authors":"Kyosuke Matsunaga, Shinjiro Fukami, Nobuyuki Nakajima, Norio Ichimasu, Michihiro Kohno","doi":"10.2176/jns-nmc.2023-0035","DOIUrl":null,"url":null,"abstract":"<p><p>Diffuse midline glioma (DMG), H3 K27M-altered, is a tumor with a poor prognosis mainly found in children. An adolescent patient presented with thalamic hemorrhage, which initially could not be diagnosed as DMG by pathological analysis. A neoplasm in the lateral ventricle close to the previous thalamic hemorrhagic lesion was detected 12 months after the hemorrhage. Thus, endoscopic resection was performed, and a diagnosis was made. Gene expression profiling demonstrated mutation in genes, such as <i>H3F3A</i> and <i>FGFR1</i>. <i>FGFR1</i> mutation was associated with intratumoral hemorrhage in low-grade gliomas and contributed to longer survival than wild-type <i>FGFR1</i> in DMG H3K27M. Our findings suggest that patients with DMG, H3 K27-altered, with <i>FGFR1</i> mutation may be predisposed to intratumoral hemorrhaging and/or have a longer survival time than patients without <i>FGFR1</i> mutation.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"10 ","pages":"309-314"},"PeriodicalIF":0.0000,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10701344/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"NMC case report journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2176/jns-nmc.2023-0035","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Diffuse midline glioma (DMG), H3 K27M-altered, is a tumor with a poor prognosis mainly found in children. An adolescent patient presented with thalamic hemorrhage, which initially could not be diagnosed as DMG by pathological analysis. A neoplasm in the lateral ventricle close to the previous thalamic hemorrhagic lesion was detected 12 months after the hemorrhage. Thus, endoscopic resection was performed, and a diagnosis was made. Gene expression profiling demonstrated mutation in genes, such as H3F3A and FGFR1. FGFR1 mutation was associated with intratumoral hemorrhage in low-grade gliomas and contributed to longer survival than wild-type FGFR1 in DMG H3K27M. Our findings suggest that patients with DMG, H3 K27-altered, with FGFR1 mutation may be predisposed to intratumoral hemorrhaging and/or have a longer survival time than patients without FGFR1 mutation.