摘要
目的明确KRAS、NRAS、HRAS、BRAF、TERT基因在甲状腺细针穿刺标本中的表达特点,并评价这些基因对细胞学辅助诊断方面的应用价值。方法回顾性研究中日友好医院病理科2019年3月至8月期间送检的甲状腺细针穿刺标本360例,每例标本均包含细胞涂片以及穿刺组织1管。涂片经95%乙醇固定后,行巴氏染色,细胞学结果依据Bethesda分级系统读片。另一瓶穿刺组织保存在生理盐水中,经核酸提取,并用实时定量PCR法进行基因检测。结果标本无法诊断或不满意43例(11.94%),良性病变67例(18.61%),意义不明确的细胞非典型病变或意义不明确的滤泡性病变37例(10.28%),滤泡性肿瘤或可疑滤泡性肿瘤17例(4.72%),可疑乳头状癌34例(9.44%),乳头状癌162例(45.00%)。BRAF V600E突变166例(46.11%),KRAS 2号外显子突变1例(0.28%),NRAS 3号外显子突变12例(3.33%),HRAS 3号外显子突变2例(0.56%),TERT启动子突变3例(0.83%)。其中NRAS突变伴有BRAF突变1例,TERT启动子突变3例均伴有BRAF突变。BRAF基因突变与患者细胞学诊断结果的相关性具有统计学意义(P<0.05);TERT基因与性别及淋巴结转移与否的相关性具有统计学意义(P<0.05);NRAS突变与细胞学诊断结果的相关性具有统计学意义(P<0.05)。结论几种基因突变中,以BRAF基因突变最为常见,且对于辅助诊断的应用价值较高;在RAS基因中又以NRAS突变居多;而TERT启动子突变一般与BRAF基因突变伴随。
Objective To clarify the characteristics of KRAS,NRAS,HRAS,BRAF and TERT genes expression in thyroid fine needle aspiration specimens,and to evaluate the application value of these genes in cytological diagnosis.Methods A retrospective study was conducted on 360 thyroid fine needle aspiration specimens sent to the Department of Pathology,China-Japan Friendship Hospital from March to August 2019. Each specimen contained several cell smears and a tube of puncture tissue. The smears were fixed with 95% alcohol and stained with Papanicolaou staining. Cytological results were read according to Bethesda System for Reporting Thyroid Cytopathology. Meanwhile,the puncture tissue was stored in saline solution,and its nucleic acid was extracted,and then its gene mutation was detected by real-time quantitative PCR. Results 43 cases( 11. 94%) of non-diagnostic( ND) or unsatisfactory( UNS),67 cases( 18. 61%)of benign lesions,37 cases( 10. 28%) of atypia of undetermined significance( AUS) or follicular lesions of undetermined significance( FLUS),17 cases( 4. 72%) of follicular neoplasm( FN) or suspicious for a follicular neoplasm( SFN),34 cases( 9. 44%) of suspicious for papillary thyroid carcinoma and 162 cases( 45. 00%) of papillary thyroid carcinoma( PTC). BRAF V600 E mutation was found in 166 cases( 46. 11%),KRAS gene exon 2 mutation in 1 case( 0. 28%),NRAS gene exon 3 mutation in 12 cases( 3. 33%),HRAS gene exon 3 mutation in 2 cases( 0. 56%) and TERT promoter mutation in 3 cases( 0. 83%). NRAS and BRAF gene co-mutation occurred in 1 case. All 3 TERT promoter mutations were accompanied by BRAF mutations. The correlation between BRAF V600 E mutation and cytological diagnosis( P < 0. 05),TERT promoter and gender or lymph node metastasis( P<0. 05),and NRAS mutation and cytological diagnosis( P<0. 05)were statistically significant. Conclusions Among those gene mutations,BRAF gene mutation is most commonly detected,and it has a relatively high value in the application of auxiliary diagnosis. NRAS is the most common mutation typ
作者
王也
姜睿盈
底锦熙
杨磊
于芳
李洁
陈皇
王晓伟
钟定荣
WANG Ye;JIANG Rui-ying;DI Jin-xi;YANG Lei;YU Fang;LI Jie;CHEN Huang;WANG Xiao-wei;ZHONG Ding-rong(Department of Pathology,China-Japan Friendship Hospital,Beijing 100029,China)
出处
《诊断病理学杂志》
2020年第11期769-774,共6页
Chinese Journal of Diagnostic Pathology
