甲状腺乳头状癌组织V-raf鼠类肉瘤滤过性病毒致癌基因同源体B1V600E突变与尿碘浓度的关系

V-raf murine sarcoma viral oncogene homolog B1 V600E mutation and urinary iodine concentration in papillary thyroid carcinoma

目的 探讨甲状腺乳头状癌（PTC）中V-raf鼠类肉瘤滤过性病毒致癌基因同源体B1（BRAF） V600E基因突变和患者的尿碘浓度（UIC）及其与临床病理特征的关系.方法 应用聚合酶链反应（PCR）技术和DNA直接测序法检测110例PTC、47例结节性甲状腺肿、26例甲状腺腺瘤患者标本中BRAF V600E基因突变,同时检测患者的尿碘浓度;分析PTC患者中BRAF V600E基因突变和尿碘浓度与患者性别、年龄、肿瘤数目、腺体外浸润、淋巴结转移及TNM分期等临床病理特征的关系.结果 在183例甲状腺结节组织中,PTC中检测到BRAF V600E突变,突变阳性率为49%（54/110）,而结节性甲状腺肿、甲状腺腺瘤标本未检测到（χ2=50.838,P=0.000）.BRAF V600E突变与PTC的腺体外浸润呈正相关（χ2=6.031,P=0.014）,与性别（P=0.363）、年龄（P=0.360）、肿瘤数目（P=0.593）、肿瘤直径（P=0.497）、淋巴结转移（P=0.554）及pTNM分期（P=0.785）无明显相关.PTC患者碘过量率为79%,高于结节性甲状腺肿的66%和甲状腺腺瘤的58%,差异有统计学意义（χ2=6.288,P=0.043）.PTC患者的尿碘浓度与性别（P=0.187）、年龄（P=0.138）、肿瘤数目（P=0.571）、肿瘤直径（P=0.454）、腺体外浸润（P=0.345）、淋巴结转移（P=0.248）及pTNM分期（P=0.792）无明显相关.PTC中BRAF V600E突变与尿碘浓度无明显相关（χ2=0.019,P=0.891）.结论 BRAF V600E突变与PTC的侵袭性明显相关,PTC患者尿碘浓度的碘过量率高于甲状腺良性结节.

Objective To investigate the V-raf murine sarcoma viral oncogene homolog B1 （BRAF） V600E mutation and urinary iodine concentration in papillary thyroid carcinoma （PTC） and the relationship with clinicopathological features.Methods Polymerase chain reaction （PCR） and gene sequencing were performed to detect BRAF V600E mutation in 110 cases of PTC,47 cases of nodular goiter and 26 of thyroid adenoma thyroid tissues.Simultaneously,the urinary iodine concentration was determined.The relationship between BRAF V600E mutation and urinary iodine concentration with clinicopathological features was studied.Results In 183 cases,BRAF V600E mutation was detected in 54 out of 110 PTC cases with a detection rate of 49% （χ2=50.838,P=0.000）.BRAF V600E mutation was negative in nodular goiter and thyroid adenoma.BRAF V600E mutation in PTC was positively correlated with extra-thymidal extension （χ2=6.031,P=0.014）,but not with gender （P=0.363）,age （P=0.360）,tumor number （P=0.593）,tumor size （P=0.497）,lymph nodal metastasis （P=0.554） and pTNM staging （P=0.785）.The excessive iodine intake rate in PTC patients was 79%,obviously higher than that in nodular goiter （66%） and thyroid adenoma （58%） with significant difference （χ2=6.288,P=0.043）.The urinary iodine concentration in PTC was negatively correlated with gender （P=0.187）,age （P=0.138）,tumor number （P=0.571）,tumor size （P=0.454）,extra-thymidal extension （P=0.345）,lymph nodal metastasis （P=0.248） and pTNM staging （P=0.792）.The BRAF V600E mutation was not associated with the concentration of iodide in the PTC （χ2=0.019,P=0.891）.ConclusionBRAF V600E mutation was a common molecular event and may increase the ability of invasion in PTC.BRAF V600E mutation was a specificity marker in the diagnosis of PTC.The urinary iodine concentration in PTC was significantly higher than that in the benign thyroid nodule diseases.