{"title":"弥漫中线胶质瘤患者,H3 K27 变异,携带 FGFR1 基因突变,丘脑出血:病例报告与文献综述","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":"{\"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}","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}
Patient with Diffuse Midline Glioma, H3 K27-altered, Carrying an FGFR1 Mutation Who Experienced Thalamic Hemorrhage: A Case Report and Literature Review.
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.