First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

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• 作者：Ramita Dewan ; Alexander Pemov ; Amalia S. Dutra ; Evgenia D. Pak…
• 关键词：Whole exome sequencing ; Single nucleotide polymorphism ; Spectral karyotyping ; NF2 gene ; Somatic mutation ; Case report
• 刊名：BMC Cancer
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：17
• 期：1
• 全文大小：1569KB
• 刊物主题：Cancer Research; Oncology; Surgical Oncology; Health Promotion and Disease Prevention; Biomedicine, general; Medicine/Public Health, general;
• 出版者：BioMed Central
• ISSN：1471-2407
• 卷排序：17

文摘

BackgroundNeurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined.