Tan Tiong Yang, Orme Lisa M, Lynch Elly, Croxford Matthew A, Dow Christopher, Dewan Paddy A, Lipton Lara
Genetic Health Services Victoria, Murdoch Children's Research Institute, Parkville VIC 3052,F
J Pediatr Hematol Oncol. 2008 Mar;30(3):254-7. doi: 10.1097/MPH.0b013e318161aa20.
Biallelic mutations in PMS2, a gene usually associated in heterozygous form with hereditary nonpolyposis colorectal cancer (HNPCC), results in a recently described childhood cancer syndrome. The tumor spectrum encompasses atypical brain cancers, hematologic malignancies, and colonic polyposis and cancer. Cutaneous stigmata resembling café-au-lait macules with more diffuse margins are frequently seen. Onset is as young as 2 years. The risk of second malignancy is high. Evidence exists for surveillance for bowel cancer, but surveillance for the wider tumor spectrum is of uncertain benefit. We report a consanguineous Australian-Lebanese family with multiple affected individuals shown to be homozygous for a PMS2 exon 7 deletion. We also review published cases of biallelic mutations in HNPCC-related genes. Early recognition of this familial cancer syndrome is critical, and should prompt investigation for familial HNPCC mutations.
PMS2基因双等位基因突变通常以杂合形式与遗传性非息肉病性结直肠癌（HNPCC）相关，现导致一种最近描述的儿童癌症综合征。肿瘤谱包括非典型脑癌、血液系统恶性肿瘤以及结肠息肉病和癌症。常可见到类似于边缘更弥散的咖啡牛奶斑的皮肤特征。发病年龄小至2岁。发生第二原发恶性肿瘤的风险很高。有证据支持对肠癌进行监测，但对更广泛肿瘤谱进行监测的益处尚不确定。我们报告了一个澳大利亚-黎巴嫩近亲家庭，其中有多个受累个体被证明为PMS2外显子7缺失的纯合子。我们还回顾了已发表的HNPCC相关基因双等位基因突变病例。早期识别这种家族性癌症综合征至关重要，应促使对家族性HNPCC突变进行调查。
