胚系突变与甲状腺乳头状癌转移的相关性

Correlation between germline mutations and lymph node metastases in papillary thyroid carcinoma

目的通过对甲状腺乳头状癌组织及血液标本进行肿瘤相关基因的高通量捕获测序,寻找转移与非转移患者的基因差异.方法利用高通量测序检测5对甲状腺癌高危组(淋巴结转移数>10个)和低危组(无淋巴结转移)的肿瘤组织体系细胞突变,以及60例甲状腺癌患者的血液标本中胚系基因突变情况.结果5对肿瘤组织突变检测显示,BRAFV600E突变为80%,高危组和低危组间无明显基因突变差异.60例血液标本中,非转移组24例,转移组36例,共检测到75个胚系基因突变,主要涉及DNA损伤修复相关通路.其中部分基因突变仅在转移组中出现.结论甲状腺癌患者中存在DNA损伤修复相关基因的胚系突变,可能在肿瘤的发生以及转移中起到了一定作用.

OBJECTIVE To analyze the genetic differences between thyroid papillary carcinoma with and without lymph node metastases via high-throughput sequencing.METHODS High throughput sequencing was used to detect somatic mutationsin 5 pairs of thyroid cancertissues of high-risk group(number of metastatic lymph nodes>10) and low-risk group,and germline mutationsin 60 blood samples of patients with thyroid cancer.RESULTSSomatic mutationsin 5 pairs of thyroid cancertissues showed that BRAFV600E accounted for 80%,and no significant difference was found between the two groups.Among the 60 blood samples,24 were non-metastasis group,and 36 were metastasis group.75 gene mutations were detected,mainly involving DNA damage and repair pathways.Some of the mutations were only found in the metastasis group.CONCLUSION Germline mutations of DNA damage and repair genes could be detected in patients with thyroid cancer,which may be involved in tumor development and metastasis.