{"title":"巨大先天性/婴儿型半球胶质瘤伴ALK和EGFR改变1例。","authors":"Derya Karatas, Saygi Uygur, Irmak Tekeli Barut, Hamide Sayar, Ahmet Dagtekin, Emel Avci","doi":"10.2176/jns-nmc.2023-0286","DOIUrl":null,"url":null,"abstract":"<p><p>Infant-type hemispheric glioma is a subtype of pediatric high-grade glioma that is seen among those under the age of 3-5 years and congenital infant-type hemispheric gliomas are another subtype which is seen among those under 6 months of age. The molecular features and overall survival of infant-type hemispheric gliomas are distinct from those of pediatric and adult high-grade gliomas. The present study reports a fraternal twin case of a giant hemispheric infant-type hemispheric glioma diagnosed at the age of 2 months and treated with gross total resection. Even though the Ki-67 proliferative index of the tumor was 70%, she has been surviving for 4 years. After molecular analysis, the first case of infant-type hemispheric glioma that had concurrent <i>echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase</i> gene fusion and an A269V point mutation on exon 7 in <i>epidermal growth factor receptor</i> gene was identified. Among <i>echinoderm microtubule-associated protein-like 4::anaplastic lymphoma</i> kinase gene fusion cases, the present study presents a rare twin case of giant infant-type hemispheric glioma that has a long recurrence-free survival without radiation or targeted therapy. In contrast, the neurocognitive test results of this case at the age of 4 years corresponded to 12-15 months of age.</p>","PeriodicalId":101331,"journal":{"name":"NMC case report journal","volume":"12 ","pages":"73-78"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947719/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Giant Congenital/Infant-type Hemispheric Glioma Harboring Concomitant ALK and EGFR Alteration.\",\"authors\":\"Derya Karatas, Saygi Uygur, Irmak Tekeli Barut, Hamide Sayar, Ahmet Dagtekin, Emel Avci\",\"doi\":\"10.2176/jns-nmc.2023-0286\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Infant-type hemispheric glioma is a subtype of pediatric high-grade glioma that is seen among those under the age of 3-5 years and congenital infant-type hemispheric gliomas are another subtype which is seen among those under 6 months of age. The molecular features and overall survival of infant-type hemispheric gliomas are distinct from those of pediatric and adult high-grade gliomas. The present study reports a fraternal twin case of a giant hemispheric infant-type hemispheric glioma diagnosed at the age of 2 months and treated with gross total resection. Even though the Ki-67 proliferative index of the tumor was 70%, she has been surviving for 4 years. After molecular analysis, the first case of infant-type hemispheric glioma that had concurrent <i>echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase</i> gene fusion and an A269V point mutation on exon 7 in <i>epidermal growth factor receptor</i> gene was identified. Among <i>echinoderm microtubule-associated protein-like 4::anaplastic lymphoma</i> kinase gene fusion cases, the present study presents a rare twin case of giant infant-type hemispheric glioma that has a long recurrence-free survival without radiation or targeted therapy. In contrast, the neurocognitive test results of this case at the age of 4 years corresponded to 12-15 months of age.</p>\",\"PeriodicalId\":101331,\"journal\":{\"name\":\"NMC case report journal\",\"volume\":\"12 \",\"pages\":\"73-78\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947719/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"NMC case report journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2176/jns-nmc.2023-0286\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 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.2023-0286","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
A Rare Case of Giant Congenital/Infant-type Hemispheric Glioma Harboring Concomitant ALK and EGFR Alteration.
Infant-type hemispheric glioma is a subtype of pediatric high-grade glioma that is seen among those under the age of 3-5 years and congenital infant-type hemispheric gliomas are another subtype which is seen among those under 6 months of age. The molecular features and overall survival of infant-type hemispheric gliomas are distinct from those of pediatric and adult high-grade gliomas. The present study reports a fraternal twin case of a giant hemispheric infant-type hemispheric glioma diagnosed at the age of 2 months and treated with gross total resection. Even though the Ki-67 proliferative index of the tumor was 70%, she has been surviving for 4 years. After molecular analysis, the first case of infant-type hemispheric glioma that had concurrent echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase gene fusion and an A269V point mutation on exon 7 in epidermal growth factor receptor gene was identified. Among echinoderm microtubule-associated protein-like 4::anaplastic lymphoma kinase gene fusion cases, the present study presents a rare twin case of giant infant-type hemispheric glioma that has a long recurrence-free survival without radiation or targeted therapy. In contrast, the neurocognitive test results of this case at the age of 4 years corresponded to 12-15 months of age.