BackgroundBRAFV600E mutation is the most common molecular alteration found in papillary thyroid carcinoma (PTC) and has been linked to recurrent disease or possibly more aggressive behavior. Some studies have reported sickle‐shaped nuclei (SSN) and plump pink cells (PPC) to be predictive markers of BRAF mutation in FNA cytology. We aimed to evaluate the reproducibility of the aforementioned cytologic features.MethodsA computerized search for diagnosed PTC surgical pathology cases tested for BRAFV600E mutation by Sanger DNA sequencing was performed. Blinded to BRAF results, the corresponding cytology was reviewed for presence of SSN and PPC. Classic nuclear PTC (CNPTC) features, cystic change, and psammoma bodies were also evaluated. The results were correlated with BRAFV600E mutational status and histologic subtypes.ResultsStudy cohort consisted of 113 cases (74 BRAFV600E mutated, 39 BRAFV600E wild type).SSN and combined CNPTC /SSN had positive predictive value of 74% and 75%, respectively. CNPTC showed 92% sensitivity and 20% specificity. Psammoma bodies had 92% specificity and 5% sensitivity. The presence of combined PPC/SSN showed 80% specificity, 27% sensitivity, and diagnostic accuracy of 45%. CNPTC was seen in 60/61 (98%) SSN and 45/45 (100%) PPC. There was no significant statistical association between SSN, PPC, and CNPTC with specific histologic subtypes and BRAF mutational status.ConclusionCNPTC is sensitive but not specific for BRAF mutational status. SSN, PPC, and CNPTC are not predictive markers for the presence of BRAF mutation or histologic subtypes. Additional studies may be needed to further corroborate these findings.

中文翻译：

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是否有特定的细胞学特征可以预测细针抽吸标本中甲状腺乳头状癌的 BRAFV600E 突变状态？

背景布拉夫V600E突变是甲状腺乳头状癌 (PTC) 中最常见的分子改变，并与疾病复发或可能更具攻击性的行为有关。一些研究报告镰状细胞核（SSN）和饱满粉红色细胞（PPC）是布拉夫FNA 细胞学突变。我们的目的是评估上述细胞学特征的重现性。方法计算机化搜索已诊断的 PTC 手术病理病例并进行测试布拉夫V600E通过桑格 DNA 测序进行突变。对 BRAF 结果不知情，对相应的细胞学检查是否存在 SSN 和 PPC。还评估了经典核 PTC (CNPTC) 特征、囊性变和砂粒体。结果与布拉夫V600E突变状态和组织学亚型。 结果研究队列由 113 例（74布拉夫V600E突变，39布拉夫V600ESSN 和组合 CNPTC /SSN 的阳性预测值分别为 74% 和 75%。CNPTC 显示出 92% 的敏感性和 20% 的特异性。砂粒体的特异性为 92%，敏感性为 5%。PPC/SSN 组合的存在显示出 80% 的特异性、27% 的敏感性和 45% 的诊断准确性。CNPTC 见于 60/61 (98%) SSN 和 45/45 (100%) PPC。SSN、PPC和CNPTC与特定组织学亚型和BRAF突变状态之间没有显着的统计学相关性。结论CNPTC对BRAF突变状态敏感但不特异。SSN、PPC 和 CNPTC 不是 BRAF 突变或组织学亚型存在的预测标记。可能需要更多的研究来进一步证实这些发现。