细针穿刺活检联合高通量测序技术在甲状腺结节诊疗中的应用  

Application of FNA combined with next⁃generation sequencing in the diagnosis and treatment of thyroid nodules

作　　者：朱枫 李青[1] 陈曦 贺洋 彭蕾[1] ZHU Feng;LI Qing;CHEN Xi;HE Yang;PENG Lei(Department of Pathology,the Third Affiliated Hospital of Soochow University,Changzhou 213003,China)

机构地区：[1]苏州大学附属第三医院病理科,江苏常州213003

出　　处：《实用医学杂志》2024年第17期2471-2476,共6页The Journal of Practical Medicine

基　　金：国家自然科学基金面上项目(编号:82072410);常州市领军型创新人才引进培育项目(编号:CQ20210121);常州市“十四五”卫生健康高层次人才培养工程-领军人才项目(编号:KY20221347)。

摘　　要：目的 探讨甲状腺细针穿刺细胞学检查联合高通量测序18基因检测在甲状腺结节诊疗中的作用及其临床意义。方法 回顾性研究2021年7—12月苏州大学附属第三医院病理科接收的甲状腺细针穿刺标本97例,送检标本同时行液基细胞学及高通量测序18基因检测,其中33例获得术后病理结果。细胞学诊断依据第3版甲状腺细胞病理Bethesda报告分类标准。组织学诊断依据第5版WHO甲状腺肿瘤分类标准。结果 97例甲状腺细针穿刺标本中标本不满意8例(8.25%),良性病变44例(45.36%),意义不明确的不典型病变9例(9.28%),可疑滤泡性肿瘤或嗜酸细胞肿瘤4例(4.12%),可疑乳头状癌10例(10.31%),乳头状癌22例(22.68%)。共有52例(53.61%)检出突变,共检出点突变及基因融合突变10个,其中BRAF突变检出率最高,达63.46%(33/52),BRAF突变在性别、年龄及细胞学诊断各组间差异均有统计学意义(P <0.05)。细胞学检查联合高通量测序基因检测诊断的准确性为97.0%,高于单纯细胞学检查(81.8%),具有更高的诊断效能。结论 甲状腺细针穿刺细胞学检查联合高通量测序多基因检测可以促进对甲状腺癌的早期诊断,也可为患者的个体化精准治疗提供参考。Objective To investigate the role and clinical significance of fine-needle aspiration combined with next-generation sequencing 18 genes detection in the diagnosis of thyroid cancer.Methods The samples were tested by liquid-based cytology and next-generation sequencing.Cytological diagnosis was based on the 3rd edition Bethesda system for reporting thyroid cytopathology.Histological diagnosis was based on the fifth WHO classification criteria for thyroid neoplasms.Results Among 97 thyroid specimens,8 cases(8.25%)were unsatis-fied,44 cases(45.36%)had benign lesions,9 cases(9.28%)had atypical cells of unknown significance,4 cases(4.12%)had suspected follicular or oncocytic tumors.Suspected papillary carcinoma was found in 10 cases(10.31%)and papillary carcinoma in 22 cases(22.68%).A total of 52 cases(53.61%)were mutated,and 10 gene muta-tions were detected,among which BRAF gene mutation had the highest detection rate 63.46%(33/52).BRAF gene mutation was associated with gender,age and cytological diagnosis(P<0.05).Cytology combined with next-generation sequencing improved the diagnostic accuracy(97.0%vs.81.8%),having higher diagnostic efficiency.Conclusion Thyroid fine-needle aspiration cytology combined with next-generation sequencing can promote early diagnosis of thyroid cancer and provide basis for individual treatment of patients.

关 键 词：细针穿刺细胞学检查 高通量测序 基因突变 甲状腺癌 

分 类 号：R736.1[医药卫生—肿瘤]