荧光定量PCR检测甲状腺结节针吸细胞甲状腺乳头状癌的原癌基因1,3的重排

Clinical implications of rearrangements during transfection of papillary thyroid cancer （RET/PTC） 1,3 detected with FQ-PCR in fine-needle aspiration specimen of thyroid nodules

目的 探讨本地区甲状腺结节针吸细胞甲状腺乳头状癌的原癌基因（RET/PTC）1和RET/PTC3重排的临床意义.方法 选择2012年1月至2013年1月间甲状腺结节针吸细胞（FNA）标本285份,用荧光定量PCR（FQ-PCR）法检测RET/PTC1、3重排.结果 甲状腺结节RET/PTC1、3重排率分别为17.2％（49/285）,1.4％（4/285）.平均随访21.7个月,19例（40.4％,19/47） RET/PTC1阳性患者术后病理证实为甲状腺乳头状癌（PTC）;RET/PTC1阳性患者中Thy5和Thy4组患者均为PTC,Thy2组进展为PTC较野生型者多（22.6％对3.2％,χ^2=6.667,P＜0.01））;另有4例（8.5％,4/47） RET/PTC1重排阳性为甲状腺良性病变.结论 用FQ-PCR检测FNA标本RET/PTC1、3重排简便、可行;RET/PTC1阳性常见于PTC,甲状腺良性病变也有少量检出.

Objective To evaluate the clinical significance of rearrangements during transfection of papillary thyroid cancer （RET/PTC） 1,3 in fine needle aspiration （FNA） specimen from regional thyroid nodules by FQ-PCR.Methods Two hundred and eighty-five FNA samples were collected from patients with thyroid nodules during January 2012 to January 2013.RET/PTC1,3 rearrangements were detected with FQ-PCR.Results The frequencies of the RET/PTC1 and RET/PTC3 rearrangements in 285 FNA samples were 17.2% （49/285） and 1.4% （4/285）,respectively.During 21.7 months of follow-up,19 （40.4%,19/47） RET/PTC1 positive patients were confirmed to have papillary thyroid carcinoma（PTC） after operation.In the patients with RET/PTC1 rearrangement PTC was found in Thy5 and Thy4 groups.In Thy 2 group,22.6% cases with RET/PTC1 rearrangements developed PTC as compared with 3.2% cases without it（χ^2=6.667,P〈0.01）.In addition,8.5% （4/47） RET/PTC1 rearrangements emerged in benign lesions.Conclusions It is convenient and reliable to detect RET/PTC1,3 rearrangements by FQ-PCR using FNA samples.RET/PTC1 rearrangement frequently occurs in PTC,however it would be detected in benign lesions occasionally.