RAS mutation and associated risk of malignancy in the thyroid gland: An FNA study with cytology-histology correlation.

RAS mutation and associated risk of malignancy in the thyroid gland: An FNA study with cytology-histology correlation.
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DOI:
10.1002/cncy.22537
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发表时间:
2022-04
影响因子:
3.4
通讯作者:
Adeniran, Adebowale J.
Adeniran, Adebowale J.
中科院分区:
医学3区
文献类型:
--
作者:
Gilani, Syed M.;Abi-Raad, Rita;Garritano, James;Cai, Guoping;Prasad, Manju L.;Adeniran, Adebowale J.

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RAS基因的激活点突变(NRAS、HRAS和KRAS)可见于良性和恶性甲状腺肿瘤;其中,NRAS突变更常见。本研究旨在评价作者所在机构甲状腺细针穿刺(FNA)中与RAS突变相关的甲状腺恶性肿瘤(ROM)风险。作者在2015年1月至2021年5月期间检索了其电子数据库系统,以查找具有任何类型RAS突变的甲状腺FNA病例。使用ThyroSeq基因组分类器、ThyGeNEXT(甲状腺癌基因组)/ThyraMIR(miRNA分类器)或ThyroSure基因组鉴定分子改变。共确定了127例病例(年龄,51 ± 14岁; 100例女性和27例男性),72例进行了组织学随访。与RAS突变(伴或不伴任何其他分子改变)相关的总体ROM为29%,而仅RAS突变的ROM较低(18%)。孤立的NRAS、HRAS和KRAS突变相关ROM分别为15%、27%和14%。在这些RAS突变的病例中,Bethesda IV类细胞学诊断的病例比III类诊断的病例具有更高的ROM(38% vs 17%)。21例经组织学证实的恶性病例在细胞学上大多被分类为IV类病变(14/34; 41%),其余为III类病变(6/35; 17%)或V类病变(1/1; 100%)。这项研究表明,甲状腺FNA中总体RAS突变相关ROM为中等(29%),孤立的HRAS突变似乎具有比NRAS和KRAS突变(分别为15%和14%)更高的ROM(27%)。
Activating point mutations of the RAS gene (NRAS, HRAS, and KRAS) can be seen in benign and malignant thyroid tumors; among these, NRAS mutations are more commonly seen. This study was conducted to evaluate the thyroid risk of malignancy (ROM) associated with RAS mutations in thyroid fine-needle aspiration (FNA) at the authors’ institution. The authors searched their electronic database system between January 2015 and May 2021 for thyroid FNA cases with any type of RAS mutation. Molecular alterations were identified with the ThyroSeq Genomic Classifier, ThyGeNEXT (thyroid oncogene panel)/ThyraMIR (miRNA classifier), or ThyroSure gene panel. A total of 127 cases (age, 51 ± 14 years; 100 females and 27 males) were identified, and 72 had histologic follow-up. The overall ROM associated with RAS mutations (with or without any other molecular alterations) was 29%, whereas the ROM was lower (18%) with RAS mutations only. Isolated NRAS, HRAS, and KRAS mutation–associated ROMs were 15%, 27%, and 14%, respectively. Among these RAS-mutated cases, the cases with a Bethesda category IV cytologic diagnosis had a higher ROM than the cases with a category III diagnosis (38% vs 17%). Twenty-one histologically confirmed malignant cases were mostly classified on cytology as category IV lesions (14 of 34; 41%), and the remainder were either category III (6 of 35; 17%) or V lesions (1 of 1; 100%). This study demonstrated that the overall RAS mutation–associated ROM in thyroid FNA was intermediate (29%), and isolated HRAS mutations appeared to have a higher ROM (27%) than NRAS and KRAS mutations (15% and 14%, respectively).
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