Mekka R Garcia, Lena Bell, Claire Miller, Devorah Segal
{"title":"婴儿型半球胶质瘤合并NTRK1融合1例。","authors":"Mekka R Garcia, Lena Bell, Claire Miller, Devorah Segal","doi":"10.1177/2329048X221146982","DOIUrl":null,"url":null,"abstract":"<p><p>The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase <i>(NTRK)</i> gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the <i>NTRK</i> fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with <i>NTRK1</i> fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":"9 ","pages":"2329048X221146982"},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/81/47/10.1177_2329048X221146982.PMC9806371.pdf","citationCount":"0","resultStr":"{\"title\":\"A Case of Infant-Type Hemispheric Glioma with <i>NTRK1</i> Fusion.\",\"authors\":\"Mekka R Garcia, Lena Bell, Claire Miller, Devorah Segal\",\"doi\":\"10.1177/2329048X221146982\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase <i>(NTRK)</i> gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the <i>NTRK</i> fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with <i>NTRK1</i> fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.</p>\",\"PeriodicalId\":72572,\"journal\":{\"name\":\"Child neurology open\",\"volume\":\"9 \",\"pages\":\"2329048X221146982\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/81/47/10.1177_2329048X221146982.PMC9806371.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Child neurology open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2329048X221146982\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child neurology open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2329048X221146982","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion.
The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with NTRK1 fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.