Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.
Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.
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DOI：
10.1002/gcc.20862
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发表时间：
2011-06
影响因子：
3.7
通讯作者：
Dingwall, Andrew K.
中科院分区：
文献类型：
--
作者：
Toth, George;Zraly, Claudia B.;Thomson, Tricia L.;Jones, Carolyn;Lapetino, Shawn;Muraskas, Jonathan;Zhang, Jiwang;Dingwall, Andrew K.
人类最常见的微缺失涉及22 q11区域。与22 q11缺失相关的先天性异常包括心脏和面部缺陷。不太常见的是共同提出的恶性横纹肌样肿瘤，是高度侵袭性的儿童恶性肿瘤，通常发现在肾或肾外软组织和中枢神经系统。一名新生儿患者表现出与22 q11缺失综合征一致的多种先天性异常，包括唇腭裂、耳标签和室间隔缺损，并伴有腋窝横纹肌样瘤。比较基因组杂交显示，22q11.2区域含有正常胎儿发育所需的基因和SMARCB 1肿瘤抑制基因的2.8 Mb种系缺失。肿瘤DNA分析显示SMARCB 1第二等位基因中外显子7的体细胞缺失。SMARCB 1的表达缺失，而肿瘤标志物包括MYC、GFAP和CLAUDIN-6上调。位于22 q11远端区域内散布的低拷贝重复元件内的串联定向BCRL模块的存在可能使该区域通过非等位同源重组发生微缺失。
The most common microdeletion in humans involves the 22q11 region. Congenital anomalies associated with 22q11 loss include cardiac and facial defects. Less frequent is the co-presentation of malignant rhabdoid tumors that are highly aggressive childhood malignancies typically found in renal or extra-renal soft tissues and central nervous system. A newborn patient presented with multiple congenital anomalies consistent with 22q11 deletion syndrome including cleft lip and palate, ear tags and ventricular septal defects co-presenting with an axillary rhabdoid tumor. Comparative genomic hybridization revealed a 2.8 Mb germline deletion in the 22q11.2 region containing genes required for normal fetal development and the SMARCB1 tumor suppressor gene. Analysis of tumor DNA revealed a somatic deletion of exon 7 in the second allele of SMARCB1. Expression of SMARCB1 was absent, while tumor markers including MYC, GFAP and CLAUDIN-6 were upregulated. The presence of tandem oriented BCRL modules located within interspersed low copy repeat elements throughout the 22q11 distal region may predispose this area for microdeletions through nonalleleic homologous recombination.
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