Department of Pediatrics, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania; Department of Pediatrics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Pediatr Blood Cancer. 2013 Nov;60(11):E135-6. doi: 10.1002/pbc.24613. Epub 2013 Jun 1.
A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation.
一名 13 岁儿童同时患有三种恶性肿瘤：多形性胶质母细胞瘤、伯基特淋巴瘤和结肠腺癌。她接受了针对这些疾病的治疗，但未能成功，在发病 8 个月后死亡。基因分析显示她存在 PMS2 基因的纯合突变，符合先天性错配修复缺陷。对其兄弟姐妹和父母进行了筛查：她的 4 个兄弟姐妹中有 3 个为该突变的杂合子，父母双方均为该突变的杂合子；第 4 个兄弟姐妹没有该突变。
