Department of Pathology, 144991The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.
Technol Cancer Res Treat. 2021 Jan-Dec;20:15330338211057982. doi: 10.1177/15330338211057982.
Thyroid nodules are common in adults, but only some of them are malignant. Ultrasound-guided fine-needle aspiration (FNA) is widely applied as a reliable and minimally invasive technique for evaluating thyroid nodules. However, the scarcity of FNA biopsy specimens poses a challenge to molecular diagnosis. This study aimed to evaluate the feasibility of FNA washout precipitation specimens as an effective supplement to the thyroid genetic test. A total of 115 patients with thyroid nodules were enrolled in our study. The V600E mutation status was detected in all FNA washout precipitation specimens and biopsy formalin-fixed paraffin-embedded (FFPE) specimens using an amplification refractory mutation system PCR (ARMS-PCR). All patients underwent cytological diagnoses; 79 patients also underwent surgery for histopathological analysis. All the 115 samples were successfully analyzed using both FNA washout precipitation and biopsy FFPE specimens. The results showed that the V600E status detected in 96 FNA washout precipitation specimens were consistent with that in FNA biopsy FFPE specimens, including 41 V600E positive and 55 V600E negative, achieving a concordance rate of 84.4% (kappa = 0.689). Furthermore, the V600E mutation status using FNA washout precipitation specimens provided a 100.0% positive predictive value for diagnosing papillary thyroid carcinoma in patients with The Bethesda system for reporting thyroid cytopathology (TBSRTC) V. Besides, the V600E mutation status was positive in 90.9% (10/11) FNA washout precipitation specimens from patients with capsule invasion, achieving a higher overall sensitivity of 100.0%, compared with 57.1% of FNA washout precipitation specimens from patients without capsule invasion. These results suggested that FNA washout precipitation specimens might be a valuable supplementary sample type for detecting the V600E mutation in patients with thyroid nodules, especially with thyroid capsule invasion.
甲状腺结节在成年人中很常见，但并非所有结节都是恶性的。超声引导下的细针抽吸（FNA）是一种广泛应用的可靠、微创技术，用于评估甲状腺结节。然而，FNA 活检标本的稀缺性给分子诊断带来了挑战。本研究旨在评估 FNA 洗脱沉淀标本作为甲状腺基因检测有效补充的可行性。
我们的研究共纳入了 115 例甲状腺结节患者。采用扩增受阻突变系统 PCR（ARMS-PCR）检测所有 FNA 洗脱沉淀标本和活检福尔马林固定石蜡包埋（FFPE）标本中的 V600E 突变状态。所有患者均进行细胞学诊断；79 例患者还接受了手术进行组织病理学分析。所有 115 例标本均成功地使用 FNA 洗脱沉淀和活检 FFPE 标本进行了分析。结果显示，96 例 FNA 洗脱沉淀标本中的 V600E 状态与 FNA 活检 FFPE 标本一致，包括 41 例 V600E 阳性和 55 例 V600E 阴性，一致性率为 84.4%（kappa 值=0.689）。此外，FNA 洗脱沉淀标本 V600E 突变状态对诊断具有 Bethesda 甲状腺细胞病理学报告系统（TBSRTC）V 级的患者的甲状腺乳头状癌具有 100.0%的阳性预测值。此外，9 例（10/11）甲状腺包膜侵犯患者的 FNA 洗脱沉淀标本 V600E 突变状态为阳性，总体敏感性为 100.0%，高于无甲状腺包膜侵犯患者的 FNA 洗脱沉淀标本（57.1%）。
这些结果表明，FNA 洗脱沉淀标本可能是一种有价值的补充标本类型，可用于检测甲状腺结节患者的 V600E 突变，特别是甲状腺包膜侵犯的患者。
