甲状腺结节细针穿刺标本BRAF V600E基因突变检测的临床应用

Use of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules

目的评估甲状腺结节细针穿刺标本BRAFV600E基因突变检测的临床应用价值。方法104个甲状腺结节细针穿刺活检时，抽取标本进行BRAFV600E基因突变定性检测，并与病理结果进行对照分析。结果85个结节取得明确细胞学或常规病理诊断，71个为甲状腺乳头状癌，14个为甲状腺良性结节。80％（57／71）的甲状腺乳头状癌BRAFV600E基因为突变型，20％为野生型；良性甲状腺结节均为野生型。突变型诊断甲状腺乳头状癌的敏感性80％，特异性100％，阳性预测值100％，阴性预测值50％（P〈0．001）。44个获得手术后常规病理学诊断的甲状腺乳头状癌病例，突变组和野生组的中央区淋巴结转移（P=0．283）和甲状腺包膜侵犯率均无明显差异（P=0．307）。结论甲状腺结节细针穿刺标本BRAFV600E基因突变检测有助于甲状腺乳头状癌的诊断，但不能预测甲状腺乳头状癌中央区淋巴结转移和甲状腺包膜侵犯。

Objective To evaluate the diagnostic and prognostic value of BRAF V600E mutation screening of ultrasound-guided fine-needle aspiration （FNA） specimens in patients with thyroid nodule. Methods The BRAF V600E mutation status were assessed in FNA specimens of 104 patients with thyroid nodules hefore operations. The BRAF mutation status, clinical, and pathology records of the patients were reviewed and the associations between these characteristics and papillary thyroid cancer （PTC） were analyzed. Results Seventy-one PTC and 14 benign thyroid nodules were included in this study. BRAF V600E mutations were found in 57/71 （80%） PTC. All benign thyroid nodules had no BRAF V600E mutation. The sensitivity, specificity,positive predictive value and negative predictive value of BRAF V600E mutations in differentiation hetween PTC and benign thyroid nodules were 80%, 100%, 100% and 50M （P〈0.001）. In 44 patients with PTC who underwent surgery, the central compartment lymph node metastases and extrathyroidal invasion were not significantly different between BRAF-positive and BRAF- negative PTC（ P = 0.283 and 0.307）. Conclusions BRAF V600E mutation may be a potential tool to facilitate ultrasound in diagnosis of PTC. In patients with PTC, the presence of the BRAFV600E mutation was not significantly associated with prognostic factors.