病例报告：患有突变的兄弟姐妹中的恶性脑肿瘤
Case Report: Malignant Brain Tumors in Siblings With Mutations.
作者信息
Wu Di, Chen Qingshan, Chen Jian
机构信息
Institute of Functional Nano and Soft Materials (FUNSOM) and Collaborative Innovation Center of Suzhou Nano Science and Technology, Soochow University, Suzhou, China.
Department of Neurosurgery, The Second People's Hospital of Liaocheng of Shandong Province, Liaocheng, China.
出版信息
Front Oncol. 2022 Jul 12;12:920305. doi: 10.3389/fonc.2022.920305. eCollection 2022.
BACKGROUND
Familial brain tumor incidences are low. Identifying the genetic alterations of familial brain tumors can help better understand the pathogenesis and make therapy regimens for these tumors.
CASE PRESENTATION
An elder female and a younger male were diagnosed with brain tumors at the age of 10 and 5, respectively. Whole-genome sequencing analysis of the two patients' blood, primary brain tumor tissues, and their parents' blood samples was performed, which revealed that the two tumor samples harbored extremely high somatic mutation loads. Additionally, we observed pigmentation on the male patient's skin.
CONCLUSION
Germline, biallelic mutation of -a gene related to DNA mismatch repair whose defect will result in constitutional mismatch repair deficiency (CMMRD)-is causal for the brain tumors of these two siblings.
背景
家族性脑肿瘤的发病率较低。确定家族性脑肿瘤的基因改变有助于更好地理解其发病机制，并制定针对这些肿瘤的治疗方案。
病例介绍
一名老年女性和一名年轻男性分别在10岁和5岁时被诊断出患有脑肿瘤。对这两名患者的血液、原发性脑肿瘤组织及其父母的血液样本进行了全基因组测序分析，结果显示这两个肿瘤样本具有极高的体细胞突变负荷。此外，我们在男性患者的皮肤上观察到色素沉着。
结论
一种与DNA错配修复相关的基因发生种系双等位基因突变，其缺陷会导致遗传性错配修复缺陷（CMMRD），是这两名兄弟姐妹患脑肿瘤的病因。
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