Abstract:

Next-generation sequencing assistants in diagnosis of testicular metastatic adenocarcinoma after gastric cancer surgery        CAO Yan-shuo*, SUN Li, SHEN Lin.   *Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education of China), Department of GI Oncology, Peking University Cancer Hospital& Institute, Beijing 100142, China
Corresponding author: SHEN Lin, E-mail: linshenpku@163.com
Abstract    Objective    To investigate the role of next-generation sequencing technique in the diagnosis and treatment of cancer. Methods    Using traditional pathologic diagnosis and next-generation sequencing and molecular evolutionary genetics analysis (MEGA) in a patient who was diagnosed of testicular metastatic adenocarcinoma 7 years after the radical surgery of gastric cancer. Results    Pathologists make the conclusion that testicular tumor is the metastasis from gastric cancer, while the results of sequencing indicates that there may be other potential original tumor instead of gastric cancer from 7 years ago. Conclusion    New gene detection technique has challenged the conclusion of traditional histopathology, and there is necessity to accumulate more data in future research to better apply this technique in clinical practice.

Key words: next-generation sequencing, molecular evolutionary genetics analysis, gastric cancer, testicular metastasis, testicular tumor

摘要：

目的    探讨二代测序技术在肿瘤疑难病例诊治中的作用。方法    北京大学肿瘤医院于2014-11-18应用传统病理组织学检查手段及二代测序和分子进化遗传分析（MEGA）对1例胃癌术后7年发现睾丸转移性腺癌病人的病理组织及外周血进行检测及诊断。结果    病理学专家一致认为睾丸转移性腺癌来源于胃癌，而基因检测结果提示病人睾丸肿瘤可能并非7年前切除的胃癌转移。结论    新的基因检测技术对传统的病理组织学诊断提出了挑战，有必要在临床研究中积累更多数据以将其更好地应用于临床实践。

关键词: 二代测序, 分子进化遗传分析, 胃癌, 睾丸转移, 睾丸肿瘤