Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene.
Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene.
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DOI：
10.1007/s10120-013-0278-2
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发表时间：
2014-10
期刊：
影响因子：
7.4
通讯作者：
Komatsu, Hirokazu
中科院分区：
文献类型：
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作者：
Sugimoto, Shinya;Yamada, Hidetaka;Takahashi, Masazumi;Morohoshi, Yuichi;Yamaguchi, Naotaka;Tsunoda, Yuya;Hayashi, Hiroyuki;Sugimura, Haruhiko;Komatsu, Hirokazu
41岁男性，无胃癌家族史，诊断为黏膜内早期胃癌。在第一次内镜下粘膜下解剖印戒细胞癌（SRCC）两个月后，发现了以前未被识别的SRCC多发糜蚀。全胃切除术后进行Roux-en-Y重建及D2淋巴结清扫的病理检查。术后病理检查发现90余处病变，虽无胃癌家族史，但主治病理医师仍参考基因检测进行易感。常规DNA测序未发现CDH1的所有外显子突变，但多重连接依赖探针扩增和逆转录-聚合酶链反应分析揭示了一个大的基因组缺失（c.1566-?_1711+?）del)，导致mRNA丢失外显子11。在家庭成员中，他的儿子被发现是这种变化的携带者，而他的父母对家族性CDH1突变呈阴性，这意味着这种变化在先证者中是一个从头开始的事件。本报告首次描述了与早发性弥漫性胃癌相关的CDH1基因的新生大基因组缺失。当临床医生发现年龄相对较轻的多发srcc患者时，即使没有家族史，也应考虑CDH1种系突变。
A 41-year-old man with no familial history of gastric cancer was diagnosed as with intramucosal early gastric cancer. Two months after the first endoscopic submucosal dissection for signet-ring cell carcinoma (SRCC), the appearance of previously unrecognized multiple erosions of SRCC was noticed. Pathological examination after a total gastrectomy and Roux-en-Y reconstruction with D2 lymph node dissection were performed. Postoperative pathological examination revealed 90 and more lesions, which tempted the attending pathologist to refer to genetic tests for the predisposition though the patient had no familial history of gastric cancer. There were no mutations in all the exons of CDH1 with conventional DNA sequencing, but multiplex ligation-dependent probe amplification, and reverse transcription-polymerase chain reaction analyses disclosed a large genomic deletion (c.1566-?_1711+?del), leading to the mRNA with loss of the exon 11. Among family members, his son was found to be a carrier of this change, while his parents were negative for the familial CDH1 mutation, implying that this change is a de novo event in the proband. The present report is the first description of a de novo large genomic deletion of CDH1 gene associated with early-onset diffuse gastric cancer. When the clinician finds a relatively-young patient who has multiple SRCCs, CDH1 germline mutation should be considered, even for patients with no familial history.
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影响因子：
9.3
作者：
Okada, K.;Fujisaki, J.;Igarashi, M.
通讯作者：
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影响因子：
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