组织和血浆BRAF~(V600E)突变联合检测在甲状腺乳头状癌中的临床价值研究

Clinical significance of combined detection of BRAFV600E mutation in tissue and plasma for thyroid papillary carcinoma

目的探讨组织和血浆BRAF^(V600E)突变对鉴别甲状腺结节性质及评估甲状腺癌病情的临床价值。方法收集188例甲状腺乳头状癌(PTC)和141例甲状腺良性病变患者的新鲜组织和血浆标本。检测并比较PTC和甲状腺良性病变患者组织和血浆中的BRAF^(V600E)突变差异,评价BRAF^(V600E)突变对鉴别甲状腺结节性质的各项诊断指标并分析其与PTC临床病理特征的相关性。结果不论是组织还是血浆标本,PTC和甲状腺良性病变患者之间的BRAF^(V600E)突变差异有统计学意义(P<0.01)。组织学BRAF^(V600E)突变诊断PTC的曲线下面积(AUC)为0.909,敏感度为84.04%,特异度为97.87%,准确度为89.97%,约登指数为0.819。在179例初治PTC患者中,组织和血浆BRAF^(V600E)突变均与PTC患者不同性别、年龄、肿瘤大小、病灶数目、双侧累及、腺外侵犯、淋巴结转移以及复发危险分层等临床病理特征无关(P>0.05)。结论甲状腺良恶性疾病患者组织和血浆中的BRAF^(V600E)突变存在显著差异,组织学BRAF^(V600E)突变检测对鉴别甲状腺结节的性质具有较高的临床诊断价值。

Objective To discuss the clinical value of BRAFV600Emutation in tissue and plasma in differentiating thyroid nodules and assessing disease of thyroid cancer.Methods Fresh thyroid tissues and matched plasma from 188 cases of PTC and 141 cases of benign lesions were collected in this study.The difference of BRAFV600Emutation in fresh tissues and plasma samples of patients with benign and malignant thyroid lesions was compared,and the diagnostic indexes of BRAFV600Emutation in identifying thyroid nodules were evaluated and the correlation between BRAFV600Emutation and PTC clinicopathological characteristics was analyzed.Results There was statistical significance on the differences in BRAFV600Emutations between PTC and thyroid benign lesions in both tissue and plasma samples(P<0.01).The area under curve(AUC)of histological diagnosis of PTC with BRAFV600Emutation was 0.909,and the sensitivity,specificity,accuracy and Youden index of BRAFV600Emutation in the diagnosis of PTC were 84.04%,97.87%,89.97%and 0.819.Among 179 PTC patients who were initially treated,the mutation of BRAFV600Ein tissue and plasma was not correlated with the clinicopathological characteristics of PTC patients inclu-ding gender,age,tumor size,number of lesions,bilateral involvement,extramedullary invasion,lymph node metastasis and recurrence risk stratification,all(P>0.05).Conclusion There is a significant difference of BRAFV600Emutation between benign and malignant thyroid diseases in tissue and plasma,and the detection of the histological BRAFV600Emutation is of high clinical diagnostic value in identifying the nature of thyroid nodules.