一名小儿髓母细胞瘤患者中 的双等位基因缺失。
Biallelic loss of in a patient with pediatric medulloblastoma.
作者信息
Tokita Mari J, Nahas Shareef, Briggs Benjamin, Malicki Denise M, Mesirov Jill P, Reyes Iris Anne C, Farnaes Lauge, Levy Michael L, Kingsmore Stephen F, Dimmock David, Crawford John R, Wechsler-Reya Robert J
机构信息
Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Department of Pediatrics and University of California San Diego, San Diego, California 92093, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5). doi: 10.1101/mcs.a004572. Print 2019 Oct.
Genome sequencing was performed on matched normal and tumor tissue from a 6.5-yr-old boy with a diagnosis of recurrent medulloblastoma. A pathogenic heterozygous c.432+1G>A canonical splice donor site variant in was detected on analysis of blood DNA. Analysis of tumor DNA showed the same splice variant along with copy-neutral loss of heterozygosity on Chromosome 20 encompassing , consistent with predicted biallelic loss of in the tumor specimen. This case strengthens the evidence implicating as a tumor-suppressor gene in medulloblastoma and highlights a scenario in which therapeutics targeting the cAMP pathway may be of great utility.
对一名6.5岁诊断为复发性髓母细胞瘤的男孩的匹配正常组织和肿瘤组织进行了基因组测序。在血液DNA分析中检测到一个致病性杂合的c.432+1G>A典型剪接供体位点变异。肿瘤DNA分析显示相同的剪接变异以及20号染色体上包含的杂合性拷贝中性缺失，这与肿瘤标本中预测的双等位基因缺失一致。该病例加强了将其作为髓母细胞瘤中肿瘤抑制基因的证据，并突出了靶向cAMP途径的治疗方法可能具有巨大效用的情况。
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