Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.
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新一代测序提高甲状腺结节的诊断效率
DOI：
10.3389/fonc.2021.677892
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发表时间：
2021
影响因子：
4.7
通讯作者：
Qu N
中科院分区：
文献类型：
--
作者：
Tan LC;Liu WL;Zhu XL;Yu PC;Shi X;Han PZ;Zhang L;Lin LY;Semenov A;Wang Y;Ji QH;Ji DM;Wang YL;Qu N
虽然细针吸取(FNA)提高了甲状腺结节的诊断方法，但仍有部分结节不能通过细胞学来确定。在贝塞斯达的甲状腺细胞病理学报告系统中，有两个不确定的细胞学结果。由于下一代测序技术的发展，有效地获取病理组织的遗传背景成为可能。因此，细胞学和遗传背景相结合可提高甲状腺结节诊断的准确性。从73例不同细胞学类型的甲状腺结节标本中提取DNA，用ThyroLead仪表板进行外显子组测序。同时用ARMS-qPCR进行BRAF突变检测。在电子病历系统中收集年龄、性别、术前细胞学、ARMS-qPCR检测BRAF突变情况、手术病理等信息。在73份FNA样本中，共检测到71个单核苷酸变异、3个融合基因和2个微卫星不稳定高状态。BRAF V600E突变是这些恶性甲状腺结节中最常见的突变。结合下一代测序检测的细胞学和遗传学背景后，我们组的诊断敏感性从0.582(95%CI：0.441-0.711)提高到0.855(95%CI：0.728-0.930)(P<；0.001)，而特异性1,000(95%CI：0.732-1.000)与0.857(95%CI：0.562-0.975)相比没有影响(P=0.25)。甲状腺结节的下一代测序仅通过细针抽吸可提高术前诊断的敏感性。它还可以为用药方向提供遗传背景。临床医生有可能将细胞学和基因改变结合起来，以获得更准确的甲状腺结节诊断策略。
Though fine-needle aspiration (FNA) improved the diagnostic methods of thyroid nodules, there are still parts of nodules that cannot be determined according to cytology. In the Bethesda system for reporting thyroid cytopathology, there are two uncertain cytology results. Thanks to the development of next-generation sequencing technology, it is possible to gain the genetic background of pathological tissue efficiently. Therefore, a combination of the cytology and genetic background may enhance the accuracy of diagnosis in thyroid nodules. DNA from 73 FNA samples of thyroid nodules belonging to different cytology types was extracted and exome sequencing was performed by the ThyroLead panel. Test for BRAF mutation was also performed by ARMS-qPCR. Information including age, sex, preoperative cytology, BRAF mutation status tested by ARMS-qPCR, and surgical pathology was collected in electronic medical record system. A total of 71 single nucleotide variants, three fusion gene, and two microsatellite instability-high status were detected in 73 FNA samples. BRAF V600E mutation is the most common mutation in these malignant thyroid nodules. After combining the cytology and genetic background detected by next-generation sequencing, the diagnosis sensitivity was increased from 0.582 (95% CI: 0.441–0.711) to 0.855 (95% CI: 0.728–0.930) (P < 0.001) in our group, while the specificity, 1,000 (95% CI: 0.732–1.000) compared to 0.857 (95% CI: 0.562–0.975) (P = 0.25), did not get affected. Next-generation sequencing in thyroid nodules can enhance the preoperative diagnosis sensitivity by fine-needle aspiration alone. It can also provide genetic background for direction of medication. It is possible for clinicians to combine cytology with genetic alterations for a more precise diagnosis strategy of thyroid nodules.
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影响因子：
29.4
作者：
Boland CR;Goel A
通讯作者：
Goel A
影响因子：
64.5
作者：
Cancer Genome Atlas Research Network
通讯作者：
Cancer Genome Atlas Research Network
DOI：
10.1056/nejmoa1209288
发表时间：
2013-02-14
期刊：
The New England journal of medicine
影响因子：
--
作者：
Ho AL;Grewal RK;Leboeuf R;Sherman EJ;Pfister DG;Deandreis D;Pentlow KS;Zanzonico PB;Haque S;Gavane S;Ghossein RA;Ricarte-Filho JC;Domínguez JM;Shen R;Tuttle RM;Larson SM;Fagin JA
通讯作者：
Fagin JA
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
DOI：
10.1126/science.1174334
发表时间：
2009-08-21
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Hill DA;Ivanovich J;Priest JR;Gurnett CA;Dehner LP;Desruisseau D;Jarzembowski JA;Wikenheiser-Brokamp KA;Suarez BK;Whelan AJ;Williams G;Bracamontes D;Messinger Y;Goodfellow PJ
通讯作者：
Goodfellow PJ