Lee Hwei-Yee, Yoon Chui-Shuen, Sevenet Nicolas, Rajalingam Vasanthi, Delattre Olivier, Walford Norman Q
Department of Pathology, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.
Pediatr Dev Pathol. 2002 Jul-Aug;5(4):395-9. doi: 10.1007/s10024-001-0259-z. Epub 2002 May 21.
The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. The tumors associated with the syndrome include atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, medulloblastoma, and extrarenal rhabdoid tumor. Rhabdoid tumor of the kidney (RTK) has not been described as part of the RPS. We report a case of a 7-month-old boy with RTK whose sister had a malignant cerebellar tumor followed by a malignant lung and pleural tumor of childhood with typical rhabdoid histology. Molecular genetic analysis of the RTK and tissue from the pleural tumor revealed in both cases identical nonsense mutations of the hSNF5/INI1 gene on chromosome 22q11.2, where thymidine was substituted for cytosine in base 472. The proband had an identical germline mutation. This is the fifth genetically analyzed RPS pedigree and the first to include an RTK.
横纹肌样易患综合征（RPS）的特点是家系中两个或更多个体携带hSNF5/INI1肿瘤抑制基因的种系突变。与该综合征相关的肿瘤包括非典型畸胎样/横纹肌样肿瘤（AT/RT）、脉络丛癌、髓母细胞瘤和肾外横纹肌样肿瘤。肾横纹肌样肿瘤（RTK）尚未被描述为RPS的一部分。我们报告一例7个月大患有RTK的男孩，其姐姐患有一种恶性小脑肿瘤，随后又患有一种具有典型横纹肌样组织学特征的儿童期恶性肺和胸膜肿瘤。对RTK和胸膜肿瘤组织进行的分子遗传学分析显示，两例均在22q11.2染色体上的hSNF5/INI1基因存在相同的无义突变，即第472位碱基处胞嘧啶被胸腺嘧啶取代。先证者有相同的种系突变。这是第五个进行基因分析的RPS家系，也是首个包含RTK的家系。
