| 王文兰 王萍 赵世华 林东亮 赵诚 王颜刚 王斐.BRAFT1799A突变、RET/PTC重排对术前诊断甲状腺乳头状癌的作用[J].,2015,15(16):3028-3033 |
| BRAFT1799A突变、RET/PTC重排对术前诊断甲状腺乳头状癌的作用 |
| Detection of BARF T1799A and RET/PTC Rearrangements in PreoperativeDiagnosis of Papillary Thyroid Carcinoma |
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| DOI： |
| 中文关键词: 甲状腺乳头状癌 超声引导下细针抽吸细胞学检查 分子标志物 分子诊断 |
| 英文关键词: Papillary thyroid carcinoma US-FNAB Molecular biomarkers Molecular diagnosis |
| 基金项目:国家自然科学基金项目(81170812)；青岛市民生科技计划项目(13-1-3-58-nsh) |
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| 中文摘要: |
| 目的：探讨术前超声引导下细针抽吸细胞学检查(US-FNAB)联合BRAFT1799A 突变、RET/PTC1及RET/PTC3重排对诊断甲状腺乳头状癌(PTC)的特异性及敏感性，为临床术前准确诊断PTC选择适用的分子标记物。方法：收集346个超声怀疑为甲状腺恶性结节的US-FNAB细胞标本及对应结节(152个)的术后新鲜组织，采用PCR分别扩增BRAFT1799A、RET/PTC1及RET/PTC3基因，产物经基因测序证实。结果：346个甲状腺术前穿刺的结节中，选择观察而未手术的结节192个，手术治疗152个，未接受手术建议的结节2个。术前US-FNAB的细胞标本中共检测到51个结节发生BRAFT1799A突变，其细胞学分类为36个恶性，11个可疑恶性，4个良性。该51个结节术后病理证实均为PTC。20个发生RET/PTC1重排，其术前细胞学结果为17个恶性，2个可疑恶性，1个滤泡性肿瘤或可疑滤泡性肿瘤，术后病理证实均为PTC。3个结节发生RET/PTC3重排，其术前细胞学结果为恶性，术后病理证实均为PTC。对45个术前US-FNAB标本检测BRAFT1799A突变阴性而术后病理证实为PTC的结节，将其对应结节的术中组织行该基因的检测，仅有1个结节的术后组织中检测到该突变。本研究中，术前US-FNAB联合多分子标志物的检测，将细胞学诊断PTC的敏感度由73.96 %提高到92.71 %。结论：术前US-FNAB联合多分子标志物的检测可提高其诊断PTC的敏感性及特异性，并有助于患者的个体化诊治。 |
| 英文摘要: |
| Objective: To study the sensitivity and specificity of US-FNAB’s (Ultrasound-fine needle aspiration biopsy, US-FNAB) combined with the analysis of BRAFT1799A 、RET/PTC rearrangements in preoperative diagnosis of papillary thyroid carcinoma (PTC) diagnosis in order to provide useful molecular biomarkers for preoperative precise diagnosis of PTC. Methods: Thyroid US-FNAB specimens from 346 nodules with suspicious malignancy risk of US features and 152 corresponding surgical samples were examined for the presence of BRAFT1799A、RET/PTC rearrangements by PCR. DNA sequencing and analysis were performed. Results: Of 346 nodules, 192 nodules were clinically observed, and 152 nodules underwent surgery, and 2 nodules refused suggestions of surgery. 51 BRAFT1799A mutations were found in FNAB specimens, of which 36 nodules were cytologically diagnosed carcinoma and 11 were indeterminate and 4 were benign. 20 RET/PTC1 rearrangements were found in FNAB specimens, of which 17 nodules were cytologically diagnosed carcinoma and 2 were indeterminate and 1 follicular adenomas. 3 RET/PTC3 rearrangements were found in FNAB specimens which were cytologically diagnosed carcinoma. All nodules with above molecular biomarkers were confirmed PTC after thyroidectomy. BRAFT1799A mutation analysis was performed on the surgical specimens from the 45 histologically diagnosed PTC that were negative in US-FNAB samplings. Only one case was negative. Molecular biomarkers analysis significantly enhanced the diagnostic value of cytology for PTC from73.96 %to92.71 %. Conclusions: Molecular biomarkers analysis can significantly enhance the diagnostic value of cytology for PTC and is also helpful for personal diagnosis and treatment. |
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