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BRAF突变检测在细针穿刺活检样本中诊断为“疑似甲状腺乳头状癌”时的应用价值

Utility of BRAF mutation detection in fine-needle aspiration biopsy samples read as "suspicious for papillary thyroid carcinoma".

作者信息

Jara Sebastian M, Bhatnagar Ramneesh, Guan Hui, Gocke Christopher D, Ali Syed Z, Tufano Ralph P

机构信息

Division of Head and Neck Endocrine Surgery, Department of Otolaryngology Head and Neck Surgery, Johns Hopkins University, School of Medicine, Baltimore, Maryland.

Division of Cytopathology, Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, Maryland.

出版信息

Head Neck. 2015 Dec;37(12):1788-93. doi: 10.1002/hed.23829. Epub 2014 Sep 25.

DOI:10.1002/hed.23829

PMID:24989827

Abstract

BACKGROUND

The purpose of this study was to evaluate the diagnostic utility of BRAF mutation testing on thyroid nodules "suspicious for papillary thyroid carcinoma" (PTC) cytology.

METHODS

A chart review of patients with fine-needle aspiration (FNA) results "suspicious for PTC" with subsequent thyroidectomy was performed. Corresponding archived FNA slides underwent BRAF mutation testing.

RESULTS

Sixty-six patients with FNA "suspicious for PTC" underwent thyroidectomy. Forty-two (63.6%) had PTC diagnosed on final histopathology, whereas 21 (31.8%) had benign findings. Thirty-five patients (83%) with histologically proven PTC underwent total thyroidectomy, whereas 7 (17%) underwent hemithyroidectomy. BRAF mutation was detected in 17 of 49 samples (34.6%) available for testing and had 45.5% sensitivity, 87.5% specificity, 88.2% positive predictive value (PPV), and 43.8% negative predictive value (NPV) for diagnosing PTC. Two of 4 patients (50%) who underwent hemithyroidectomy with subsequent completion thyroidectomy had mutated BRAF detected.

CONCLUSION

BRAF testing is a useful adjunct to improve PPV for patients with "suspicious for PTC" cytology.

摘要

背景

本研究的目的是评估BRAF突变检测对甲状腺结节细针穿刺（FNA）结果“可疑为甲状腺乳头状癌”（PTC）的诊断效用。

方法

对FNA结果“可疑为PTC”并随后接受甲状腺切除术的患者进行病历回顾。对相应的存档FNA玻片进行BRAF突变检测。

结果

66例FNA结果“可疑为PTC”的患者接受了甲状腺切除术。42例（63.6%）最终组织病理学诊断为PTC，而21例（31.8%）为良性结果。35例（83%）经组织学证实为PTC的患者接受了全甲状腺切除术，7例（17%）接受了半甲状腺切除术。在49份可用于检测的样本中，17份（34.6%）检测到BRAF突变，其诊断PTC的敏感性为45.5%，特异性为87.5%，阳性预测值（PPV）为88.2%，阴性预测值（NPV）为43.8%。4例接受半甲状腺切除术随后又进行了甲状腺全切术的患者中，有2例（50%）检测到BRAF突变。