Molecular analysis of the rhabdoid predisposition syndrome in a child:: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification
Molecular analysis of the rhabdoid predisposition syndrome in a child:: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification
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DOI：
10.1023/a:1024345221792
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发表时间：
2003-07-01
影响因子：
3.9
通讯作者：
Yamashita, J
中科院分区：
文献类型：
--
作者：
Fujisawa, H;Takabatake, Y;Yamashita, J
作者报告了一例继发于种系hSNF 5/INI 1突变的横纹肌样倾向综合征（RPS），其脑肿瘤最初未分类，但最终通过分子分析诊断为非典型畸胎瘤/横纹肌样肿瘤（AT/RT）。摘要一个七个月大的婴儿因松果体巨大肿瘤而造成脑积水，随后发展成肾脏横纹肌样肿瘤。脑肿瘤的组织学最初未确定;然而，由于她的临床病程，强烈怀疑AT/RT。通过异源双链和直接序列分析对hSNF 5/INI 1基因进行突变筛查，发现在密码子53处存在错义突变（CGA->TGA，精氨酸）。停止）在两种肿瘤中，以及在肾脏的正常组织中。聚合酶链反应（PCR）为基础的微卫星分析显示，在这两个肿瘤的等位基因丢失染色体臂22 q的hSNF 5/INI 1基因的地图。用差异PCR检测c-myc扩增，但未检测到。通过免疫组织化学对脑肿瘤进行组织学检查，证实了上皮膜抗原和平滑肌肌动蛋白的局部表达。这些发现表明，脑肿瘤实际上是一个AT/RT作为RPS的组成部分继发于种系hSNF 5/INI 1突变。目前的突变从未在文献中报道。
The authors report a case of the rhabdoid predisposition syndrome (RPS) secondary to a germline hSNF5/INI1 mutation, whose brain tumor was originally unclassified but finally diagnosed as an atypical teratoid/rhabdoid tumor (AT/RT) by molecular analysis. A 7-month-old infant presented with hydrocephalus secondary to a huge pineal tumor and subsequently developed a renal rhabdoid tumor. The histology of the brain tumor was initially undetermined; however, anAT/RT was strongly suspected because of her clinical course. Mutational screening of the hSNF5/INI1 gene by heteroduplex and direct sequence analysis detected a missense mutation at codon 53 (CGA-->TGA, arginine. stop) in both tumors, as well as in normal tissue of the kidney. Polymerase chain reaction (PCR)-based microsatellite analysis showed in both tumors allelic loss on chromosome arm 22q to which the hSNF5/INI1 gene maps. c-myc amplification was examined by differential PCR but not detected. Histologic review of the brain tumor by immunohistochemistry confirmed focal expression of epithelial membrane antigen and smooth muscle actin. These findings suggest that the brain tumor was really an AT/RT as a component of RPS secondary to a germline hSNF5/INI1 mutation. The present mutation has never been reported in the literature.