Next generation sequencing technology for susceptible gene screening in familial non-medullary thyroid carcinoma
10.3760/cma.j.issn.0253-3766.2017.01.005
- VernacularTitle: 二代测序技术应用于家族性非髓样甲状腺癌易感基因筛查
- Author:
Li DONG
1
;
Yang YU
1
;
Jinpu YU
2
;
Weijing HAO
1
;
Xiangqian ZHENG
1
;
Yanan CHENG
2
;
Lei HAN
2
;
Jingzhu ZHAO
1
;
Ming GAO
1
Author Information
1. Department of Thyroid and Neck Tumors, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, China
2. Cancer Molecular Diagnostic Center, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin 300060, China
- Publication Type:Clinical Trail
- Keywords:
Thyroid neoplasms;
Multilocus sequence typing;
Genetic predisposition to disease;
Genetic testing;
Early diagnosis
- From:
Chinese Journal of Oncology
2017;39(1):24-28
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To screen genes related to familial non-medullary thyroid carcinoma (FNMTC) using next-generation sequencing (NGS).
Methods:A panel of NGS was designed and sequencing was performed for DNA samples extracted from peripheral blood leukocytes of FNMTC patients and sporadic non-medullary thyroid carcinoma (SNMTC) cases, respectively, and gene mutations were screened. In addition, the clinicopathological characteristics, including tumor size, extension of surgery, lymph node metastasis and extra-thyroidal extension, were compared between patients with or without mutations.
Results:In 63 NMTC samples, 45 mutations were detected on 13 genes. 37 germline mutations were detected in 47 FNMTC patients, while 8 germline mutations were detected in 16 SNMTC patients. In 8 FNMTC family lineages, the same mutations were carried by FNMTC patients from the same pedigree. The number of carriers of mutations was 29 in the 47 FNMTC patients and 6 in the 16 SNMTC patients, with a non-significant difference (P= 0.092). Among the FNMTC patients, there were 22 patients with central lymph node metastasis in the 29 mutation-positive patients, significantly more than 7 in the 16 mutation-negative cases (P= 0.031). As for the parentage, there were 3 patients with central lymph node involvement among the 7 patients of parent generation, while all the 9 patients of offspring generation had central lymph node metastasis (P=0.019).
Conclusions:This panel of NGS can be used to screen mutant susceptibility gene of FNMTC patients, and the findings may be helpful for early detection of FNMTC patients and predicting the disease risk to familial members of FNMTC patients.
