Diagnostic value and lymph node metastasis prediction of a custom‑made panel (thyroline) in thyroid cancer.
Diagnostic value and lymph node metastasis prediction of a custom‑made panel (thyroline) in thyroid cancer.
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甲状腺癌定制组合（甲状腺素）的诊断价值和淋巴结转移预测。
DOI：
10.3892/or.2018.6493
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发表时间：
2018-08
期刊：
影响因子：
4.2
通讯作者：
Xiao H
中科院分区：
文献类型：
--
作者：
Ke Z;Liu Y;Zhang Y;Li J;Kuang M;Peng S;Liang J;Yu S;Su L;Chen L;Sun C;Li B;Cao J;Lv W;Xiao H
甲状腺结节良恶性的鉴别对临床治疗至关重要。在这里，我们探讨了下一代测序（NGS）在预测甲状腺结节良恶性分类和淋巴结转移状态方面的有效性，并将结果与超声（US）进行了比较。甲状腺线检测了98例福尔马林固定石蜡包埋（FFPE）组织中15个靶基因突变和2个融合基因，其中包括82例甲状腺癌（TC）患者和16例良性结节患者。57.69%的乳头状甲状腺癌（PTC）患者存在BRAF突变，而所有甲状腺髓样癌（MTC）患者均存在RET突变。多个突变阳性，但在间变性甲状腺癌（ATC）和滤泡性甲状腺癌（FTC）中没有显性突变。NGS预测甲状腺良恶性结节鉴别的敏感性和特异性分别为79.27和93.75%，阳性预测值（PPV）和阴性预测值（NPV）分别为98.48和46.88%。US的敏感性和特异性分别为76.83和6.25%，PPV和NPV分别为80.77和5.00%。NGS和US的曲线下面积（AUC）分别为0.865和0.415。27例患者有≥1个淋巴结转移灶，其中19例携带突变，包括BRAF、RET、NRAS、PIK3CA、TP53、CTNNB1和PTEN。然而，特异性基因突变的变异等位基因频率与转移淋巴结数量之间没有相关性。综上所述，NGS的预测价值高于美国甲状腺影像学报告和数据系统（TI-RADS）。NGS对FFPE标本中甲状腺结节良恶性及病理亚型的准确鉴别具有重要价值。本研究结果可能为NGS在细针穿刺活检样本分析中的应用铺平道路。
Differentiation of benign and malignant thyroid nodules is crucial for clinical management. Here, we explored the efficacy of next-generation sequencing (NGS) in predicting the classification of benign and malignant thyroid nodules and lymph node metastasis status, and simultaneously compared the results with ultrasound (US). Thyroline was designed to detect 15 target gene mutations and 2 fusions in 98 formalin-fixed, paraffin-embedded (FFPE) tissues, including those from 82 thyroid cancer (TC) patients and 16 patients with benign nodules. BRAF mutations were found in 57.69% of the papillary thyroid cancer (PTC) cases, while RET mutations were detected among all the medullary thyroid cancer (MTC) cases. Multiple mutations were positive but none showed dominance in anaplastic thyroid cancer (ATC) and follicular thyroid cancer (FTC). The sensitivity and specificity of NGS prediction in differentiation of benign and malignant thyroid nodules were 79.27 and 93.75%, respectively, and the positive predictive value (PPV) and negative predictive value (NPV) were 98.48 and 46.88%, respectively. The sensitivity and specificity of US were 76.83 and 6.25%, respectively, and the PPV and NPV were 80.77 and 5.00%, respectively. The area under curve (AUC) of NGS and US were 0.865 and 0.415, respectively. A total of 27 patients had ≥1 metastases to lymph nodes, 19 of which carried mutations, including BRAF, RET, NRAS, PIK3CA, TP53, CTNNB1 and PTEN. However, there was no correlation between the variant allele frequency of specific gene mutations and the number of metastatic lymph nodes. In conclusion, the prediction value of NGS was higher than the US-based Thyroid Imaging Reporting and Data System (TI-RADS). NGS is valuable for the accurate differentiation of benign and malignant thyroid nodules, and pathological subtypes in FFPE samples. The findings of the present study may pave the way for the application of NGS in analyzing fine-needle aspiration (FNA) biopsy samples.
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影响因子：
5.2
作者：
LeBlanc VG;Marra MA
通讯作者：
Marra MA
影响因子：
--
作者：
Jin L;Chen E;Dong S;Cai Y;Zhang X;Zhou Y;Zeng R;Yang F;Pan C;Liu Y;Wu W;Xing M;Zhang X;Wang O
通讯作者：
Wang O
影响因子：
4.2
作者：
Gharib, Hossein;Papini, Enrico;Vitti, Paolo
通讯作者：
Vitti, Paolo
影响因子：
4.8
作者：
Jeh, Su-Kyoung;Jung, So Kyung;Lee, Yoen Soo
通讯作者：
Lee, Yoen Soo
影响因子：
5.8
作者：
Melo, Miguel;da Rocha, Adriana Gaspar;Soares, Paula
通讯作者：
Soares, Paula