中文摘要：

目的研究中国人甲状腺肿瘤的RET／PTC和H4-PTEN基因重排的规律及其与临床病理的联系。方法运用RT-PCR和测序的方法，检测了139例患者的甲状腺肿瘤组织中RET／PTC-1、RET／PTC-2、RET／PTC-3、ELKS—RET以及H4-PTEN（H4／PTEN和PTEN／H4）的重排方式。结果在126例甲状腺乳头状癌中，共发现12例RET／PTC-1重排、6例RET／PTC-3重排、6例次H4／PTEN重排和7例次PTEN／H4重排，其中有3例同时检出了两种以上重排，总的重排阳性率为21、4％（27／126）。H4-PTEN重排阳性的病例在三次重复实验中，不能得到相同的结果。重排阳性的病例具有发病年龄较轻（P=0．02）和淋巴转移概率较高的特点（P=0．02），RET重排阳性的患者颈侧区的淋巴转移的概率较高（P〈0．01）。PTEN／H4重排也存在于甲状腺髓样癌（2／5）。结论H4-PTEN重排可以与RET／PTC重排同时发生。甲状腺乳头状癌是一种具有高度重排易感性的肿瘤。重排阳性的甲状腺乳头状癌具有发病年龄较轻和淋巴转移概率较高的特点。

英文摘要：

Objective To investigate the characteristics of RET/PTC and H4-PTEN rearrangement and the association between gene rearrangement and clinicopathological properties of thyroid carcinoma. Methods Rearrangement of RET/PTC-1 ,RET/PTC-2,RET/PTC-3,ELKS-RET and H4-PTEN（ H4/PTEN and PTEN/H4 ） was analyzed in 139 thyroid tumor tissues by using RT-PCR and sequencing. Results Twelve RET/PTC-1, 6 RET/PTC-3, 6 H4/PTEN and 7 PTEN/H4 were detected in 126 papillary thyroid carcinomas. In 3 cases, both RET/PTC and H4-PTEN were identified simultaneously. However, repeated experiments did not give the same results of H4-PTEN rearrangement. The overall frequency of rearrangement was 21.4% （ 27/126 ）. The patients with gene rearrangement were younger （ P = 0. 02 ） and had a higher frequency of lymph node involvement（ P = 0. 02）. High frequency of lateral neck lymph node involvement was detected in RET/PTC positive PTC （ P 〈 0. 01 ）. PTEN/H4 rearrangement could also be detected in medullary thyroid carcinoma （2/5）. Conclusions H4-PTEN rearrangement can occur simultaneously with RET/PTC rearrangement in PTC. High predisposition to gene rearrangement is a characteristic of PTC. The patients of PTC with gene rearrangement are younger and have a higher frequency of lymph node involvement.