Neurosurgery elucidates somatic mutations

• 成果类型: Editorial Material
• 署名作者: Maury, Eduardo A.; Walsh, Christopher A.; Kahle, Kristopher T.
• 署名单位: Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Harvard University; Harvard Medical School; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Howard Hughes Medical Institute; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Harvard University; Harvard University Medical Affiliates; Massachusetts General Hospital
• 刊物名称: SCIENCE
• ISSN/ISSBN: 0036-12890
• DOI: 10.1126/science.adj2244
• 发表日期: 2023-12-22
• 页码: 1360-1362
• 关键词: malformations; PATHWAY

摘要

Surgical innovation is helping to identify roles for somatic mutations in brain disorders Somatic variants are genomic alterations present in some cells of the body but not in others. In contrast to inherited germline variants, somatic variants are typically acquired during postzygotic cell divisions or from environmental factors. Somatic variants in a given tissue can also be highly dynamic, such as in the brain, where the number of clonal variants can change during aging and disease (1). Neuro-oncology has greatly benefited from the analyses of somatic mutations in tissue obtained from surgical biopsies or resections. Increased understanding of somatic mutations in brain tumors brought a revolution in prognostication and individualized treatments. Somatic mutations are now increasingly being implicated in neurological disorders beyond cancer, particularly in children with congenital brain and cerebrovascular diseases. Teams of neurosurgeons and scientists are performing gene sequencing on surgical brain samples from these patients- paving the way to expand understanding of nononcologic brain disease through the study of somatic mutations.