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伴有突变的同步多原发性胃肠道癌:一例报告

Synchronous multiple primary gastrointestinal cancers with mutations: A case report.

作者信息

Hu Mu-Ni, Lv Wei, Hu Rui-Yue, Si Yi-Fan, Lu Xiao-Wen, Deng Yan-Juan, Deng Huan

机构信息

Medical College, Nanchang University, Nanchang 330006, Jiangxi Province, China.

Department of Pharmacology, Jiangxi Provincial People's Hospital, Nanchang 330006, Jiangxi Province, China.

出版信息

World J Clin Cases. 2019 Jul 6;7(13):1703-1710. doi: 10.12998/wjcc.v7.i13.1703.

Abstract

BACKGROUND

Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between mutations and synchronous multiple primary gastrointestinal cancers is largely unknown.

CASE SUMMARY

A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in , and .

CONCLUSION

This case suggests that the combination of mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.

摘要

背景

同步性多原发性癌(SMPC)是指两个或更多同时发生且起源不同的恶性肿瘤,无论其类型或位置如何。SMPC的致癌过程通常涉及某些特定基因的变异。然而,突变与同步性多原发性胃肠道癌之间的相关性在很大程度上尚不清楚。

病例摘要

一名62岁女性持续腹痛一周后来我院就诊。胃肠内镜检查发现胃和结肠直肠均有多个小息肉样病变。计算机断层扫描和实验室检查结果均在正常范围内。病理评估确诊为印戒细胞癌,无明显转移证据。恶性细胞E-钙黏蛋白呈阴性,β-连环蛋白在细胞质和细胞核中呈阳性。对石蜡包埋组织进行的DNA测序显示,[此处原文缺失相关基因名称]存在两个完全一致的改变。

结论

该病例提示,[此处原文缺失相关基因名称]突变与WNT/β-连环蛋白信号激活共同促成了胃肠道SMPC的致癌过程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bed2/6658371/805ab0a69c0b/WJCC-7-1703-g001.jpg

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