Multigene testing is helpful for thyroid nodules diagnosed with unclear significance by fine needle aspiration
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摘要:
目的 探讨多基因检测对甲状腺细针穿刺（FNA）意义不明确类型结节的诊断价值。 方法 选取2018年8月~2020年5月河北医科大学第四医院56例符合甲状腺C-TIRADS 4类结节FNA诊断为意义不明确的细胞非典型病变或滤泡性病变行多基因检测。以术后病理诊断结果为“金标准”，56例FNA诊断意义不明确类型结节中TBSRTC Ⅲ级42例，TBSRTC Ⅳ级12例，TBSRTC Ⅴ级2例，均取得基因检测结果报告。比较BRAF V600E突变结果和多基因检测结果的敏感度、特异性、准确性、阳性预测值、阴性预测值。 结果 56例FNA诊断意义不明确类型结节中术后病理诊断为良性2例（1例为结节性甲状腺肿，1例甲状腺腺瘤），术后病理诊断为恶性54例（50例甲状腺乳头状癌，4例甲状腺髓样癌），C-TIRADS 4A类结节直径22.5±23.3 mm，其中结节的直径≤10 mm的2例，C-TIRADS 4B类结节直径8.0±7.1 mm，其中结节的直径≤10 mm的14例，C-TIRADS 4C类结节直径7.0±6.2 mm，其中结节的直径≤10 mm的36例。BRAF单基因检测诊断意义不明确类型结节良恶性的敏感度、特异性、准确性、阳性预测值、阴性预测值分别为60.0%、25.0%、56.7%、91.3%、3.45%；多基因检测结合C-TIRADS分类诊断意义不明确类型结节良恶性的敏感度、特异性、准确性、阳性预测值、阴性预测值分别为80.0%、86.4%、75.7%、93.3%、65.5%，多基因检测方法比BRAF单基因检测具有更高的诊断准确率。 结论 多基因检测有助于明确甲状腺细针穿刺意义不明确类型结节的诊断。 Abstract:Objective To investigate the diagnostic value of multi-gene detection for thyroid nodules with unclear significance by fine needle aspiration (FNA). Methods Fifty-six cases of atypical cell lesions or follicular lesions with unclear significance diagnosed by FNA of thyroid C-TIRADS 4 nodules in the Fourth Hospital of Hebei Medical University from August 2018 to May 2020 were selected for multi-gene detection. The results of postoperative pathological diagnosis were used as the 'gold standard'. Among the 56 cases of nodules with unclear diagnostic significance of FNA, there were 42 cases of TBSRTC grade Ⅲ, 12 cases of TBSRTC grade Ⅳ and 2 cases of TBSRTC grade Ⅴ, all of which were reported by genetic test results. The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of BRAF V600E mutation results and multi-gene detection results were compared. Results Among the 56 cases of FNA with unclear diagnostic significance, postoperative pathological diagnosis was benign in 2 cases (1 case of nodular goiter, 1 case of thyroid adenoma), and postoperative pathological diagnosis was malignant in 54 cases (50 cases of papillary thyroid carcinoma, 4 cases of medullary thyroid carcinoma). The diameter of the nodules was 22.5±23.3 mm in C-TIRADS 4A, including 2 cases of nodules with a diameter≤10 mm. The diameter of the nodules was 8.0±7.1 mm in C-TIRADS 4B, including 14 cases of nodules with a diameter≤10 mm. The diameter of the nodules was 7.0±6.2 mm in C-TIRADS 4C, including 36 cases of nodules with a diameter≤10 mm. The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of BRAF single gene detection in the diagnosis of benign and malignant nodules with unclear significance were 60.0 %, 25.0 %, 56.7 %, 91.3 % and 3.45 %, respectively. The sensitivity, specificity, accuracy, positive predictive value and negative predictive value of multi-gene detection combined with C-TIRADS classification in the diagnosis of benign and malignant nodules with unclear significance were 80.0%, 86.4%, 75.7%, 93.3% and 65.5%, respectively. Multi-gene detection method has higher diagnostic accuracy than BRAF single gene detection. Conclusion Multi-gene detection is helpful to clarify the diagnosis of thyroid FNA nodules with unclear significance. -
Key words:
- multi-gene detection /
- thyroid nodules /
- fine needle aspiration biopsy
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图 1 甲状腺结节超声图像
Figure 1. Ultrasound images of thyroid nodules. A: Thyroid nodules (C-TIRADS 4A); B: Thyroid nodules (C-TIRADS 4B); C: Thyroid nodules (C-TIRADS 4C).
表 1 甲状腺可疑恶性结节的临床资料及手术病理结果
Table 1. Clinical data and surgical pathological results of suspected malignant thyroid nodules
Nodule C-TIRADS Type 4A Type 4B Type 4C Age (years, Mean±SD) 26.5±7.7 41.0±12.3 36.0±9.4 Gender(n) Male 1 1 6 Female 1 14 33 Maximum diameter of nodules (mm, Mean±SD) 22.5±23.3 8.0±7.1 7.0±6.2 Pathological type (n) Papillary carcinoma 0 12 38 Medullary carcinoma 1 2 1 Adenoma 0 1 0 Nodular giter 1 0 0 
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表 2 不同病理结果对应基因阳性改变
Table 2. Different pathological results correspond to positive gene changes (n)
Pathologic result BRAF gene mutation RAS gene mutation RET gene mutation Fusion gene No mutant gene and fusion gene were detected Papillary carcinoma 38 1 0 3 8 Medullary carcinoma 0 3 1 0 0
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表 3 多基因检测及BRAF单基因检测的诊断效能
Table 3. Diagnostic efficacy of multi-gene detection and BRAF single gene detection (%)
Test method Sensitivity Specificity Accuracy Positive prediction value Negative prediction value BRAF single gene 60.0 25.0 56.7 91.3 3.5 Multi-gene testing 80.0 86.4 75.7 93.3 65.5
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