甲状腺乳头状癌中BRAFT1799A基因点突变及其与临床病理特征的关系分析
| 作者: |
1刘丽云,
1胡月明,
2李岩冰,
3龚健
1 河北省唐山市工人医院病理科，河北 唐山 063000 2 河北省唐山市工人医院头颈外科，河北 唐山 063000 3 河北省唐山市第二医院 老年骨科，河北 唐山 063000 |
| 通讯: |
刘丽云
Email: liuliyun1102@sina.com |
| DOI: | 10.3978/.2018.05.006 |
| 基金: | 河北省科技计划资助项目（152777219）；河北省卫计委医学研究基金资助项目（20160851）。 |
摘要
目的：探讨甲状腺乳头状癌（PTC）组织中BRAFT1799A基因点突变情况及其与PTC临床病理特征之间的关系。
方法：选取97例PTC组织以及52例PTC癌旁正常组织与49例结节性甲状腺肿组织，采用巢式PCR法检测甲状腺组织中BRAFT1799A基因位点突变情况，分析BRAFT1799A基因位点突变与PTC临床病理因素的关系。
结果：97例PTC组织中，59例（60.82%）出现BRAFT1799A位点突变，而癌旁正常组织与结节性甲状腺肿组织均无BRAFT1799A位点突变，差异有统计学意义（P<0.05）。BRAFT1799A位点突变与PTC患者性别、年龄、肿瘤大小无明显关系（均P>0.05），与肿瘤临床分期、肿瘤多发灶、包膜外侵犯、淋巴结转移、规范化治疗6个月甲状腺球蛋白值及远处转移密切有关（P<0.05）。PTC组织进行亚型分型结果显示，嗜酸细胞型1例，高细胞亚型1例，普通型46例，滤泡型49例；普通型与滤泡型突变率差异无统计学意义（63.04% vs. 61.22%，P>0.05）。
结论：PTC中BRAFT1799A位点突变率高，且BRAFT1799A位点突变可能与PTC术后的复发转移密切相关。
关键词：
甲状腺肿瘤；癌，乳头状；raf激酶类；突变
方法：选取97例PTC组织以及52例PTC癌旁正常组织与49例结节性甲状腺肿组织，采用巢式PCR法检测甲状腺组织中BRAFT1799A基因位点突变情况，分析BRAFT1799A基因位点突变与PTC临床病理因素的关系。
结果：97例PTC组织中，59例（60.82%）出现BRAFT1799A位点突变，而癌旁正常组织与结节性甲状腺肿组织均无BRAFT1799A位点突变，差异有统计学意义（P<0.05）。BRAFT1799A位点突变与PTC患者性别、年龄、肿瘤大小无明显关系（均P>0.05），与肿瘤临床分期、肿瘤多发灶、包膜外侵犯、淋巴结转移、规范化治疗6个月甲状腺球蛋白值及远处转移密切有关（P<0.05）。PTC组织进行亚型分型结果显示，嗜酸细胞型1例，高细胞亚型1例，普通型46例，滤泡型49例；普通型与滤泡型突变率差异无统计学意义（63.04% vs. 61.22%，P>0.05）。
结论：PTC中BRAFT1799A位点突变率高，且BRAFT1799A位点突变可能与PTC术后的复发转移密切相关。
Analysis of BRAFT1799A gene mutation and its relations with clinicopathologic features in papillary thyroid cancer
CorrespondingAuthor:LIU Liyun Email: liuliyun1102@sina.com
Abstract
Objective: To investigate the BRAFT1799A gene mutation in papillary thyroid cancer (PTC) tissues and its relations with clinicopathologic features of PTC.
Methods: Ninety-seven samples of PTC tissue along with 52 samples of normal thyroid tissue adjacent to PTC and 49 samples of nodular goiter tissue were collected. The BRAFT1799A gene mutations in these tissues were determined by nested PCR. The relations of BRAFT1799A gene mutation with clinicopathologic factors of PTC were analyzed.
Results: In the 97 samples of PTC tissue, BRAFT1799A gene mutation was found in 49 samples (60.82%), while no BRAFT1799A gene mutation was found in samples of normal thyroid tissue adjacent to PTC and nodular goiter tissue, and the difference had statistical significance (P<0.05). In PTC patients, the BRAFT1799A gene mutation showed no significant relation with the gender, age and tumor size (all P>0.05), but was significantly related to the clinical stage, multiple foci, extra-capsular invasion, lymph node metastasis, thyroglobulin value after six months of standardized treatment and distant metastases (all P<0.05). Subtype classification of PTC showed that one case was eosinophilic cytoplasm variant PTC, one case was tall cell variant PTC, 46 cases were conventional PTC, and 49 cases were follicular variant PTC; there was no significant difference in mutation rates of the BRAFT1799A gene between conventional PTC and follicular variant PTC (63.04% vs. 61.22%, P>0.05).
Conclusion: There is a high mutation rate of BRAFT1799A gene in PTC, and the BRAFT1799A gene mutation may probably have a close relation with the postoperative recurrence and metastasis of PTC.
Keywords：
Thyroid Neoplasms; Carcinoma
Papillary; raf Kinases; Mutation
Methods: Ninety-seven samples of PTC tissue along with 52 samples of normal thyroid tissue adjacent to PTC and 49 samples of nodular goiter tissue were collected. The BRAFT1799A gene mutations in these tissues were determined by nested PCR. The relations of BRAFT1799A gene mutation with clinicopathologic factors of PTC were analyzed.
Results: In the 97 samples of PTC tissue, BRAFT1799A gene mutation was found in 49 samples (60.82%), while no BRAFT1799A gene mutation was found in samples of normal thyroid tissue adjacent to PTC and nodular goiter tissue, and the difference had statistical significance (P<0.05). In PTC patients, the BRAFT1799A gene mutation showed no significant relation with the gender, age and tumor size (all P>0.05), but was significantly related to the clinical stage, multiple foci, extra-capsular invasion, lymph node metastasis, thyroglobulin value after six months of standardized treatment and distant metastases (all P<0.05). Subtype classification of PTC showed that one case was eosinophilic cytoplasm variant PTC, one case was tall cell variant PTC, 46 cases were conventional PTC, and 49 cases were follicular variant PTC; there was no significant difference in mutation rates of the BRAFT1799A gene between conventional PTC and follicular variant PTC (63.04% vs. 61.22%, P>0.05).
Conclusion: There is a high mutation rate of BRAFT1799A gene in PTC, and the BRAFT1799A gene mutation may probably have a close relation with the postoperative recurrence and metastasis of PTC.