Reflex BRAF Testing in Thyroid Fine-Needle Aspiration Biopsy with Equivocal and Positive Interpretation: A Prospective Study
Reflex BRAF Testing in Thyroid Fine-Needle Aspiration Biopsy with Equivocal and Positive Interpretation: A Prospective Study
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DOI：
10.1089/thy.2011.0021
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发表时间：
2011-07-01
期刊：
影响因子：
6.6
通讯作者：
Chhieng, David C.
中科院分区：
文献类型：
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作者：
Adeniran, Adebowale J.;Theoharis, Constantine;Chhieng, David C.
背景：BRAF V600E突变已在50%-80%的乳头状甲状腺癌（PTC）病例中被报道，并且对PTC具有高度特异性。反射性BRAF检测可提高甲状腺细针穿刺（FNA）检查的诊断准确性，这些检查有模棱两可的细胞学解释，并提供预后信息，有助于指导PTC患者的治疗。患者和方法：本前瞻性研究纳入了甲状腺FNA读数模棱两可（PTC不确定和可疑）或PTC诊断阳性并伴有BRAF突变分析的病例。BRAF突变分析采用多聚酶链反应结合单链构象多态性凝胶电泳，采用针冲洗的灌洗液。组织病理学随访结果与细胞学解释和BRAF状态相关。结果：157个细胞学解释不明确或阳性的FNAs符合研究条件。除1个（99.4%）外，所有FNAs均具有足够的DNA质量和数量。基于术后结节的随访诊断，单独细胞学检查诊断PTC的敏感性为63.3%，细胞学检查与BRAF检测联合诊断PTC的敏感性为80.0%。细胞学和BRAF突变分析均未发现假阳性。所有甲状腺外延伸和高细胞变异的ptc均呈BRAF突变阳性。结论：BRAF V600E突变分析可以很容易地在细胞学准备中使用针冲洗获得的灌洗液进行。结合形态学评估和BRAF检测，术前对PTC的鉴别与单独细胞学检查相比有很大的提高。细胞学诊断不明确和BRAF V600E突变的患者可以选择全甲状腺切除术+/-中央淋巴结清扫术。
Background: The BRAF V600E mutation has been reported in 50%-80% of papillary thyroid carcinoma (PTC) cases and is highly specific for PTC. Reflex BRAF testing may improve the diagnostic accuracy of thyroid fine-needle aspiration (FNA) tests having equivocal cytologic interpretations and provide prognostic information that helps guide management in patients with PTC.Patients and Methods: Cases with equivocal thyroid FNA readings (indeterminate and suspicious for PTC) or a positive diagnosis for PTC and concomitant BRAF mutation analysis were included in this prospective study. BRAF mutation analysis was performed by polymerase chain reaction combined with single-strand conformation polymorphism gel electrophoresis using lavage fluid obtained from needle rinsing. The results of histopathologic follow-up were correlated with the cytologic interpretations and BRAF status.Results: One hundred fifty-seven FNAs with equivocal or positive cytologic interpretations were eligible for the study. All but one (99.4%) FNAs were found to have sufficient DNA quality and quantity for the assay. Based on the follow-up diagnosis of nodules after surgical resection, the sensitivity for diagnosing PTC was 63.3% with cytology alone and 80.0% with the combination of cytology and BRAF testing, respectively. No false positives were noted with either cytology or BRAF mutation analysis. All PTCs with extrathyroidal extension and of tall-cell variant were postive for BRAF mutation.Conclusions: BRAF V600E mutation analysis can be easily performed on cytologic preparation using lavage fluids obtained from needle rinsing. By combining morphologic evaluation and BRAF testing, there is a substantial improvement in the preoperative identification of PTC when compared with cytology alone. Patients with equivocal cytologic diagnosis and BRAF V600E mutation are candidates for total thyroidectomy +/- central lymph node dissection.