中国实用外科杂志

中国实用外科杂志 ›› 2022, Vol. 42 ›› Issue (01): 108-113.DOI: 10.19538/j.cjps.issn1005-2208.2022.01.16

• 论蓍 • 上一篇    下一篇

利用高通量测序技术检测甲状腺乳头状癌基因变异的临床研究

许光伟，运新伟，赵敬柱，魏松锋，郑向前，张    艳   

  1. 天津医科大学肿瘤医院 国家肿瘤临床医学研究中心 天津市肿瘤防治重点实验室 天津市恶性肿瘤临床医学研究中心 甲状腺颈部肿瘤科，天津300060
  • 出版日期:2022-01-01 发布日期:2022-01-14

  • Online:2022-01-01 Published:2022-01-14

摘要： 目的    利用高通量测序技术（next-generation sequencing technology，NGS）检测甲状腺乳头状癌（papillary thyroid carcinoma，PTC）病人癌组织（cancer tissue，CA）及转移淋巴结（metastatic lymph node，MLN）的基因突变情况，分析基因变异与CA、MLN组织及癌旁组织（normal tissues，NT）的相关性，以期为甲状腺乳头状癌的个体化治疗提供依据。方法    利用高通量测序技术对天津医科大学肿瘤肿瘤医院自2020年5月至2020年6月收治入院的20例配对的PTC病人CA、MLN及NT进行基因检测。结果    CA和MLN中BRAF V600E突变率分别为80%（16/20）和55%（11/20）。在NT中未发现任何基因变异。1例CA和MLN均检测到ZNF33B-RET和CCDC6-RET融合。1例多灶性甲状腺微小乳头状癌（papillary thyroid microcarcinoma，PTMC）病人的MLN中发现ATM基因突变，其形态学特征与癌组织相同。结论    BRAF V600E基因是最常见基因突变。原发灶和淋巴结转移组织的BRAF突变受累基本一致。ATM突变可能与PTC的发生及转移存在一定的相关性。

关键词: 甲状腺乳头状癌, 转移淋巴结, 基因突变 , 高通量测序

Abstract: The Profile of genetic variations in papillary thyroid carcinoma detected by next-generation sequencing        XU Guang-wei, YUN Xin-wei Yun, ZHAO Jing-zhu， et al. Department of Thyroid and Neck Tumor, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin’s Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin 300060, China
Corresponding  author：ZHANG Yan，E-mail：18622221139@163.com
Abstracts    Objective  The study was aimed to investigate the status of primary disease in thyroid and the metastatic disease in the involved lymph node in the papillary thyroid carcinoma patients by next-generation sequencing technology.
Methods    Next-generation sequencing was performed to test the genetic variations in 20 paired (patients operated from May 2020 to June 2020)papillary thyroid carcinoma tissues and metastatic lymph nodes. Results    The mutation rates of BRAF V600E in primary papillary thyroid carcinoma tissue and paired metastatic lymph nodes were 80% (16/20) and 55% (11/20), respectively. No genetic variations were found in any of the nearby normal thyroid tissues. Both ZNF33B-RET and CCDC6-RET fusions were detected in one patient’s both primary papillary thyroid carcinoma and metastatic lymph node. It was intriguing to find gain of Ataxia telangiectasia mutated ATM mutation in a multifocal micro papillary thyroid carcinoma patient’s metastatic lymph node, which showed identical morphological features to that of primary thyroid tissue. Conclusion    BRAF V600E was the most common event in our study, and the status of BRAF was consistent between primary disease and metastatic lymph nodes involvement, despite of some paradoxical cases showing heterogenous genotypes. ATM mutation may be correlated with the occurrence and metastasis of PTC.

Key words: papillary thyroid carcinoma, metastatic lymph node, genetic variations, next-generation sequencing