Objective Telomerase reverse transcriptase(TERT) promoter mutations have recently been described in thyroid carcinoma.The purpose of this study was to investigate the clinical significance of(v-raf murine sarcoma vira...Objective Telomerase reverse transcriptase(TERT) promoter mutations have recently been described in thyroid carcinoma.The purpose of this study was to investigate the clinical significance of(v-raf murine sarcoma viral oncogene homolog B1) BRAF V600 E and TERT promoter mutations in differentiated thyroid carcinoma(DTC).The relationship between the two mutations and NIS/TSHR expression was also analyzed.Methods We have detected BRAF V600 E and TERT promoter mutations by direct sequencing and NIS/TSHR expression by immunohistochemistry in 229 cases of DTC,52 cases of benign nodular goiter,and 31 cases of normal thyroid tissue.Results The BRAF V600 E mutation was detected in 142(62.0%) of 229 cases of DTC [141 cases of papillary thyroid carcinoma(PTC) and 1 case of follicular thyroid carcinoma(FTC)].TERT promoter mutations were detected in 18(7.9%) of 229 cases of DTC(14 cases of PTC and 4 cases of FTC),including the mutations C228T(0.9%) and C250T(7.0%),which were mutually exclusive.Moreover,11(61.1%) cases also harbored the BRAF V600 E mutation,which was not associated with gender,age,tumor size,lymph node metastasis,and recurrence risk stratification(P >0.05).The rate of TERT promoter mutation was higher in males,age ≥45,and in the middle/high-risk group(P <0.05),and the rate of simultaneous BRAF V600 E and TERT promoter mutations were higher in the middle/high-risk group(P <0.05).In addition,NIS positive rate in the concurrent BRAF V600 E and TERT promoter mutation group(45.5 %) was lower than in other groups(that is,the DTC group with BRAF V600 E or TERT promoter mutations(55.1%),the DTC group with no BRAF V600 E or TERT promoter mutation(57.5%),the nodules and normal group(75.9%);| r | = 0.171,P = 0.002).Conclusion TERT promoter mutations were lower in patients with DTC,with the C250 T mutation being the most common.The detection of BRAF V600 E mutation combined with TERT promoter mutations was instructive for the prognosis assessment and treatment of DTC.展开更多
目的探讨初诊断Graves病患者白细胞或中性粒细胞减少的相关因素及其与TRAb水平的相关性。方法选取初诊断Graves病患者336例,根据白细胞及中性粒细胞水平分组,238例白细胞和中性粒细胞正常者为对照组（A组）,98例白细胞或中性粒细胞减少...目的探讨初诊断Graves病患者白细胞或中性粒细胞减少的相关因素及其与TRAb水平的相关性。方法选取初诊断Graves病患者336例,根据白细胞及中性粒细胞水平分组,238例白细胞和中性粒细胞正常者为对照组（A组）,98例白细胞或中性粒细胞减少者为研究组（B组）。比较并分析2组患者的一般情况及实验室检查特征。结果 B组TRAb水平显著高于A组（18.09±13.29 vs 13.75±12.9,P〈0.05）,而甲功、TGAb、TPOAb无统计学差异。回归分析表明,Graves病甲亢患者合并白细胞或中性粒细胞减少的风险女性大于男性（P〈0.05）。Graves病甲亢患者TRAb水平越高,合并白细胞或中性粒细胞减少的风险越大（OR=1.025,95%CI=1.005～1.046,P=0.014）。Graves病甲亢患者白细胞计数（r=-0.024,P=0.001）、中性粒细胞计数（r=-0.018,P=0.003）与TRAb水平呈负相关。结论初诊断Graves病患者白细胞或中性粒细胞减少与TRAb水平相关。展开更多
Objective To explore the characterization of thyroidstimulating hormone receptor ( TSHR) gene mutationalspectrum in children with hyperthyroidism from Guangzhou.Methods Ninety children were diagnosed with hyperthyroid...Objective To explore the characterization of thyroidstimulating hormone receptor ( TSHR) gene mutationalspectrum in children with hyperthyroidism from Guangzhou.Methods Ninety children were diagnosed with hyperthyroidismfrom July 2009 to July 2014 in our institute.Their median age at diagnosis was ( 7. 5 ± 3. 4 )years,and there were 28 males and 62 females. Mutationalanalysis were performed by performing polymerasechain reaction(PCR) and DNA direct sequencing of exon10 of TSHR gene. TSHR gene mutations from 50 unrelatedhealthy children were served as controls. The correlationbetween TSHR gene and hyperthyroidism in childrenwas explored. Results A total of 3 mutations were identifiedin ninety children who were diagnosed with hyperthyroidism,one synonymous mutations(p. V614V),andtwo missense mutations ( p. R707W and p. D727E).展开更多
基金Supported by a grant from the Beijing Medical Awards Foundation(No.YJHYXK YJJ-206)
文摘Objective Telomerase reverse transcriptase(TERT) promoter mutations have recently been described in thyroid carcinoma.The purpose of this study was to investigate the clinical significance of(v-raf murine sarcoma viral oncogene homolog B1) BRAF V600 E and TERT promoter mutations in differentiated thyroid carcinoma(DTC).The relationship between the two mutations and NIS/TSHR expression was also analyzed.Methods We have detected BRAF V600 E and TERT promoter mutations by direct sequencing and NIS/TSHR expression by immunohistochemistry in 229 cases of DTC,52 cases of benign nodular goiter,and 31 cases of normal thyroid tissue.Results The BRAF V600 E mutation was detected in 142(62.0%) of 229 cases of DTC [141 cases of papillary thyroid carcinoma(PTC) and 1 case of follicular thyroid carcinoma(FTC)].TERT promoter mutations were detected in 18(7.9%) of 229 cases of DTC(14 cases of PTC and 4 cases of FTC),including the mutations C228T(0.9%) and C250T(7.0%),which were mutually exclusive.Moreover,11(61.1%) cases also harbored the BRAF V600 E mutation,which was not associated with gender,age,tumor size,lymph node metastasis,and recurrence risk stratification(P >0.05).The rate of TERT promoter mutation was higher in males,age ≥45,and in the middle/high-risk group(P <0.05),and the rate of simultaneous BRAF V600 E and TERT promoter mutations were higher in the middle/high-risk group(P <0.05).In addition,NIS positive rate in the concurrent BRAF V600 E and TERT promoter mutation group(45.5 %) was lower than in other groups(that is,the DTC group with BRAF V600 E or TERT promoter mutations(55.1%),the DTC group with no BRAF V600 E or TERT promoter mutation(57.5%),the nodules and normal group(75.9%);| r | = 0.171,P = 0.002).Conclusion TERT promoter mutations were lower in patients with DTC,with the C250 T mutation being the most common.The detection of BRAF V600 E mutation combined with TERT promoter mutations was instructive for the prognosis assessment and treatment of DTC.
文摘目的探讨甲状腺乳头状癌(PTC)中促甲状腺激素受体(TSHR)和钠/碘协同转运体(NIS)蛋白表达与相应基因的甲基化及T1799A BRAF基因突变的关系。方法应用直接测序法检测60例PTC和20例癌旁正常甲状腺组织中T1799A BRAF突变;甲基化特异性PCR(MSP)检测上述标本中的TSHR和NIS的基因甲基化;免疫组化法检测蛋白表达。结果60例PTC标本中,BRAF突变率为65%(n=39),TSHR和NIS基因甲基化的发生率分别为43%(n=26)和27%(n=16),突变和甲基化与临床病理特征未见显著关联。TSHR蛋白表达阳性评分在TSHR甲基化阳性组和阴性组中分别为1.3±0.5和1.7±0.7(P=0.009),NIS蛋白表达阳性评分在NIS甲基化阳性组和阴性组中分别为1.1±0.5和1.5±0.6(P=0.019)。BRAF突变的PTC病例中,TSHR和NIS蛋白表达阳性评分显著低于野生组(TSHR,1.4±0.5 vs 1.8±0.8,P=0.031;NIS,1.3±0.6 vs 1.7±0.6,P=0.009),TSHR和NIS基因甲基化发生率显著高于野生组(TSHR,54%vs 36%,P=0.049;NIS,24%vs 10%,P=0.034)。结论PTC中相应基因的甲基化和BRAF突变可能是TSHR和NIS蛋白表达减弱并分布异常的原因。
文摘目的探讨初诊断Graves病患者白细胞或中性粒细胞减少的相关因素及其与TRAb水平的相关性。方法选取初诊断Graves病患者336例,根据白细胞及中性粒细胞水平分组,238例白细胞和中性粒细胞正常者为对照组（A组）,98例白细胞或中性粒细胞减少者为研究组（B组）。比较并分析2组患者的一般情况及实验室检查特征。结果 B组TRAb水平显著高于A组（18.09±13.29 vs 13.75±12.9,P〈0.05）,而甲功、TGAb、TPOAb无统计学差异。回归分析表明,Graves病甲亢患者合并白细胞或中性粒细胞减少的风险女性大于男性（P〈0.05）。Graves病甲亢患者TRAb水平越高,合并白细胞或中性粒细胞减少的风险越大（OR=1.025,95%CI=1.005～1.046,P=0.014）。Graves病甲亢患者白细胞计数（r=-0.024,P=0.001）、中性粒细胞计数（r=-0.018,P=0.003）与TRAb水平呈负相关。结论初诊断Graves病患者白细胞或中性粒细胞减少与TRAb水平相关。
文摘Objective To explore the characterization of thyroidstimulating hormone receptor ( TSHR) gene mutationalspectrum in children with hyperthyroidism from Guangzhou.Methods Ninety children were diagnosed with hyperthyroidismfrom July 2009 to July 2014 in our institute.Their median age at diagnosis was ( 7. 5 ± 3. 4 )years,and there were 28 males and 62 females. Mutationalanalysis were performed by performing polymerasechain reaction(PCR) and DNA direct sequencing of exon10 of TSHR gene. TSHR gene mutations from 50 unrelatedhealthy children were served as controls. The correlationbetween TSHR gene and hyperthyroidism in childrenwas explored. Results A total of 3 mutations were identifiedin ninety children who were diagnosed with hyperthyroidism,one synonymous mutations(p. V614V),andtwo missense mutations ( p. R707W and p. D727E).
