甲状腺细针穿刺细胞涂片的和突变的分子检测：一项单中心试点研究。（注：原文中“and”前后的内容缺失，无法准确完整翻译）

Molecular Testing for and Mutations from Cytoscrapes of Thyroid Fine Needle Aspirates: A Single-Center Pilot Study.

作者信息

Gupta Ojas, Gautam Upasana, Chandrasekhar Muralidaran, Rajwanshi Arvind, Radotra Bishan Dass, Verma Roshan, Srinivasan Radhika

机构信息

Department of Cytology and Gynecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

J Cytol. 2020 Oct-Dec;37(4):174-181. doi: 10.4103/JOC.JOC_45_20. Epub 2020 Nov 7.

DOI:10.4103/JOC.JOC_45_20

PMID:33776257

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7984513/

Abstract

CONTEXT AND AIM

Molecular testing of thyroid FNA has been advocated in the indeterminate categories of The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) 2018. The utility of cytoscrapes of thyroid FNA samples for V600E and mutations was evaluated in this pilot study.

METHODS AND MATERIALS

Thyroid FNA samples between 2015 and 2018 from TBSRTC categories 3-6 were included. DNA was extracted from one to two representative smears (cytoscrape). Real-time PCR for V600E and (, , and ) gene mutations was performed. Histopathology correlation was available in 44 cases.

STATISTICAL METHODS

Chi-square test and calculation of sensitivity, specificity, and positive/negative predictive values were performed.

RESULTS

A total of 73 thyroid FNA cases and 11 nodal metastases of papillary thyroid carcinoma (PTC) were evaluated. The DNA yield ranged from 1.9 to 666 ng/μl (mean 128 ng/μl) in 80 cases and was insufficient in four cases. Overall, mutations were seen in 45 (56.25%) cases with V600E, , , and in 21 (46.7%), 19 (42.2%), 4, and 1 cases, respectively. V600E mutation was seen in PTC (11/18, 61%), nodal PTC metastases (5/10, 50%), and occasionally in TBSRTC category 3 (1/18, 5.5%). mutations were seen across all categories and were maximum in the AUS/FLUS group (6/18, 33%). V600E /RAS testing had an overall sensitivity, specificity, and positive and negative predictive values of 61.7%, 80%, 91.3%, and 38%, respectively, for the detection of malignancy. In indeterminate thyroid nodules, the sensitivity, specificity, PPV, and NPV were 56.2%, 80%, 81.8%, and 53.3%, respectively.

CONCLUSION

V600E/RAS mutation testing from cytoscrapes are useful as a rule-in test for indeterminate thyroid nodules and provide molecular confirmation in nodal metastases of PTC.

摘要

背景与目的

2018年甲状腺细胞病理学报告贝塞斯达系统（TBSRTC）中，建议对不确定分类的甲状腺细针穿刺活检（FNA）进行分子检测。本初步研究评估了甲状腺FNA样本的细胞涂片用于检测V600E和其他突变的效用。

方法与材料

纳入2015年至2018年TBSRTC分类3 - 6的甲状腺FNA样本。从一到两张代表性涂片（细胞涂片）中提取DNA。进行V600E和其他（BRAF、NRAS、HRAS和KRAS）基因突变的实时聚合酶链反应（PCR）。44例病例有组织病理学相关性。

统计方法

进行卡方检验并计算敏感性、特异性以及阳性/阴性预测值。

结果

共评估了73例甲状腺FNA病例和11例甲状腺乳头状癌（PTC）的淋巴结转移。80例样本的DNA产量范围为1.9至666 ng/μl（平均128 ng/μl），4例样本产量不足。总体而言，45例（56.25%）病例检测到突变，其中V600E、BRAF、NRAS和KRAS突变分别见于21例（46.7%）、19例（42.2%）、4例和1例。V600E突变见于PTC（11/18，61%）、PTC淋巴结转移（5/10，50%），偶尔也见于TBSRTC分类3（1/18，5.5%）。BRAF突变在所有分类中均有发现，在AUS/FLUS组中最多见（6/18，33%）。V600E/BRAF/RAS检测对恶性肿瘤检测的总体敏感性、特异性、阳性和阴性预测值分别为61.7%、80%、91.3%和38%。在不确定的甲状腺结节中，敏感性（56.2%）、特异性（80%）、阳性预测值（81.8%）和阴性预测值（53.3%）。