RAS Mutations in AUS/FLUS Cytology: Does it Have an Additional Role in BRAFV600E Mutation-Negative Nodules?
RAS Mutations in AUS/FLUS Cytology: Does it Have an Additional Role in BRAFV600E Mutation-Negative Nodules?
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DOI：
10.1097/md.0000000000001084
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发表时间：
2015-07
期刊：
影响因子：
1.6
通讯作者：
Kwak JY
中科院分区：
文献类型：
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作者：
Yoon JH;Kwon HJ;Lee HS;Kim EK;Moon HJ;Kwak JY
本研究的目的是评估RAFV600E突变阴性结节在细胞学诊断为未确定意义的非典型性/未确定意义的滤泡性病变(AUS/FLUS)中对甲状腺恶性肿瘤的诊断价值。本研究从2009年12月至2011年12月，对201例BRAFV600E突变阴性的甲状腺结节进行AUS/FUS细胞学检查。用超声引导细针抽吸(US-FNA)细胞学检测K-RAS、N-RAS和H-RAS密码子12/13和61点突变的残留物进行RAS突变分析。作者评估了RAS突变状态与细胞病理学特征之间的关系。在202例AUS/Flus细胞学检查为BRAFV600E突变阴性的甲状腺结节中，有4例被认为不足以进行突变分析。198个甲状腺结节中，良性148个(74.7%)，恶性50个(25.3%)。198个甲状腺结节中RAS突变阳性31个(15.7%)，K-RAS阳性4个，N-RAS 61阳性26个，H-RAS 61阳性1个。7例(22.6%)RAS基因突变阳性结节为恶性，1例K-RAS 12/13，6例N-RAS 61。K-RAS 12/13(N = 3)、N-RAS 61(N = 20)或H-RAS 61(N = 1)突变阳性的31个结节中，24个(77.4%)为良性。198个甲状腺结节K-RAS 61、N-RAS 12/13和H-RAS 12/13突变均为阳性。在AUS/FUS细胞学检测的BRAFV600E突变阴性结节中，N-RAS 61突变是最常见的突变。RAS基因突变对AUS/FUS细胞学阴性的BRAFV600E阴性甲状腺结节恶性程度的预测价值有限，并有望进一步探讨RAS基因突变在甲状腺恶性病变中的真实作用。
The object of this study is to evaluate the additional role of RAS mutation in detecting thyroid malignancy among BRAFV600E mutation-negative nodules diagnosed as atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) on cytology. From December 2009 to December 2011, 202 BRAFV600E mutation-negative thyroid nodules diagnosed as AUS/FLUS cytology in 201 patients were included in this study. RAS mutation analysis was performed using residual material from ultrasonography-guided fine needle aspiration (US-FNA) cytology testing for K-RAS, N-RAS, and H-RAS codons 12/13 and 61 point mutations. The authors evaluated the association between RAS mutation status and cytopathologic characteristics. Of the 202 BRAFV600E mutation-negative thyroid nodules with AUS/FLUS cytology, 4 were considered insufficient for mutation analysis. Of the 198 thyroid nodules, 148 (74.7%) were confirmed as benign and 50 (25.3%) as malignant. Thirty-one (15.7%) of the 198 thyroid nodules were positive for any RAS mutation, 4 positive for K-RAS 12/13, 26 for N-RAS 61, and 1 positive for H-RAS 61. Seven (22.6%) of the RAS mutation positive nodules were malignant, 1 with K-RAS 12/13, 6 with N-RAS 61. Twenty-four (77.4%) of the 31 nodules positive for K-RAS 12/13 (N = 3), N-RAS 61 (N = 20), or H-RAS 61 (N = 1) mutations were proven benign. None of the 198 thyroid nodules were positive for K-RAS 61, N-RAS 12/13, or H-RAS 12/13 mutations. N-RAS 61 mutation is the most common mutation detected among BRAFV600E mutation-negative nodules with AUS/FLUS cytology. RAS mutation has limited value in predicting malignancy among BRAFV600E mutation-negative thyroid nodules with AUS/FLUS cytology and further, investigation is anticipated to evaluate the true role of RAS mutation in thyroid malignancy.