目的:分析BRAF^(V600E)和RAS基因突变在甲状腺乳头状癌(PTC)中的发生情况,研究BRAF^(V600E)和RAS基因突变与PTC各临床病理特征及预后的相关性。方法:通过cBioPortal网站下载整理癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库中PT...目的:分析BRAF^(V600E)和RAS基因突变在甲状腺乳头状癌(PTC)中的发生情况,研究BRAF^(V600E)和RAS基因突变与PTC各临床病理特征及预后的相关性。方法:通过cBioPortal网站下载整理癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库中PTC的相关信息,选取资料完善的402例PTC样本的基因突变和临床信息进行分析。先单因素分析BRAF^(V600E)和RAS基因突变与临床病理参数的相关性,再对其进行多因素Logistic回归分析。结果:在402例PTC中,BRAF^(V600E)的突变率为48.5%(195/402),RAS基因突变率为10.2%(41/402)。单因素分析显示BRAF^(V600E)突变与患者的年龄、性别无关(P>0.05),与有无淋巴结转移、有无腺外侵犯、分期、复发进展和病理亚型有关(P<0.05);RAS基因突变与患者年龄、性别、分期、复发进展无关(P>0.05),与有无淋巴结转移、有无腺外侵犯和病理亚型有关(P <0.05)。Logistics回归分析显示BRAF^(V600E)基因突变与有无腺外侵犯和PTC的病理亚型有关(P<0.05),RAS基因突变与有无淋巴结转移、有无腺外侵犯和PTC病理亚型有关(P<0.05)。结论:在PTC中,BRAF^(V600E)基因突变率显著高于RAS基因突变率;BRAF^(V600E)和RAS基因突变可作为PTC患者预后的预测因素。展开更多
采用突变等位基因特异性扩增法(mutant allele specific amplication,MASA-PCR)检测了125例甲状腺石蜡包埋组织中BRAFV600E点突变(包括94例甲状腺癌,15例甲状腺腺瘤,15例结节性甲状腺肿和1例癌旁正常组织),探讨甲状腺乳头状癌(PTC)与其...采用突变等位基因特异性扩增法(mutant allele specific amplication,MASA-PCR)检测了125例甲状腺石蜡包埋组织中BRAFV600E点突变(包括94例甲状腺癌,15例甲状腺腺瘤,15例结节性甲状腺肿和1例癌旁正常组织),探讨甲状腺乳头状癌(PTC)与其临床病理学特征之间的关系。结果发现,仅在PTC和1例甲状腺未分化癌中检测到BRAFV600E突变,PTC中突变率为68.4%(57/83),主要见于经典型PTC和微小癌,其突变率分别为73%(52/71)和2/3,在其它类型的甲状腺癌及良性病变中均未检测到BRAFV600E突变。临床病理资料显示,患者发病平均年龄为45岁,突变率在40岁以上者显著高于40以下者(χ2=4.69,P<0.05),而与性别、淋巴结转移、慢性淋巴细胞浸润无显著关系(P<0.05)。结果显示,1)BRAFV600E突变仅发生于PTC和部分未分化癌,是PTC中较常见的遗传学事件,可为PTC的发生机制提供新的视点。2)BRAFV600E突变主要见于经典型PTC和微小癌,可能是甲状腺乳头状癌表型的重要决定因素之一。展开更多
Objective To investigate the role of BRAF^V600E mutation in diagnosis of thyroid nodules when it is inconsonant with cytological results.Methods This study included 9837 patients who underwent US-FNA.We mainly analyze...Objective To investigate the role of BRAF^V600E mutation in diagnosis of thyroid nodules when it is inconsonant with cytological results.Methods This study included 9837 patients who underwent US-FNA.We mainly analyzed 239 cases with benign or indeterminate cytology,but having a detection of BRAF^V600E mutation.BRAF^V600E mutation analysis was performed using a Amplification Refractory Mutation System Polymerase Chain Reaction.Results In 93 nodules with benign cytology results but positive BRAF^V600E mutation,84 nodules were malignant.Based on the results,US-FNA combined with BRAF^V600E mutation analysis will improve sensitivity(Se=94.03%)and negative predictive value(NPV=2.69%)of the thyroid nodules diagnosis than using US-FNA alone(Se=71.03%,NPV=20.76%).Conclusion BRAFV600E mutation analysis is an important tool in the diagnosis of PTC with high sensitivity and NPV.When facing patients with benign or indeterminate cytology but positive BRAF^V600E mutation,thyroidectomy should be considered.展开更多
Background Papillary thyroid carcinoma （PTC） represents one of the most frequent endocrine malignancies. Several factors have been found to be involved in determining the outcome of treatment for patients with PTC. ...Background Papillary thyroid carcinoma （PTC） represents one of the most frequent endocrine malignancies. Several factors have been found to be involved in determining the outcome of treatment for patients with PTC. Large tumor size, diagnosis at an early age, extra-thyroidal invasion, aggressive histological variants, and distant metastases are the most important determinants of a poor outcome. BRAF^V600E mutation has been found to be a major genetic alteration in PTC. This study aimed to evaluate progression in patients with multifocal and solitary PTC. Methods We performed a retrospective study to analyze 368 patients with PTC who underwent surgery, including 282 patients with solitary PTC and 86 patients with multifocal PTC. The status ofBRAF^V600E mutation in all tumor foci from multifocal PTC was detected. Results Our study suggested that multifocal PTC was more related to lymph node metastasis and vascular invasion than solitary PTC. However, the distant metastasis rate and 10-year survival rate showed no difference between these two groups. The number of tumor loci did not affect progression of disease in multifocal PTC patients. Lymph node metastasis in multifocal PTC patients was associated with larger tumors, diagnosis at early stage, and extra-thyroidal invasion. Conclusion The status of BRAF^V600Emutation was more frequent in multifocal PTC patients with lymph node metastasis and diagnosis at later age.展开更多
文摘目的:分析BRAF^(V600E)和RAS基因突变在甲状腺乳头状癌(PTC)中的发生情况,研究BRAF^(V600E)和RAS基因突变与PTC各临床病理特征及预后的相关性。方法:通过cBioPortal网站下载整理癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库中PTC的相关信息,选取资料完善的402例PTC样本的基因突变和临床信息进行分析。先单因素分析BRAF^(V600E)和RAS基因突变与临床病理参数的相关性,再对其进行多因素Logistic回归分析。结果:在402例PTC中,BRAF^(V600E)的突变率为48.5%(195/402),RAS基因突变率为10.2%(41/402)。单因素分析显示BRAF^(V600E)突变与患者的年龄、性别无关(P>0.05),与有无淋巴结转移、有无腺外侵犯、分期、复发进展和病理亚型有关(P<0.05);RAS基因突变与患者年龄、性别、分期、复发进展无关(P>0.05),与有无淋巴结转移、有无腺外侵犯和病理亚型有关(P <0.05)。Logistics回归分析显示BRAF^(V600E)基因突变与有无腺外侵犯和PTC的病理亚型有关(P<0.05),RAS基因突变与有无淋巴结转移、有无腺外侵犯和PTC病理亚型有关(P<0.05)。结论:在PTC中,BRAF^(V600E)基因突变率显著高于RAS基因突变率;BRAF^(V600E)和RAS基因突变可作为PTC患者预后的预测因素。
文摘采用突变等位基因特异性扩增法(mutant allele specific amplication,MASA-PCR)检测了125例甲状腺石蜡包埋组织中BRAFV600E点突变(包括94例甲状腺癌,15例甲状腺腺瘤,15例结节性甲状腺肿和1例癌旁正常组织),探讨甲状腺乳头状癌(PTC)与其临床病理学特征之间的关系。结果发现,仅在PTC和1例甲状腺未分化癌中检测到BRAFV600E突变,PTC中突变率为68.4%(57/83),主要见于经典型PTC和微小癌,其突变率分别为73%(52/71)和2/3,在其它类型的甲状腺癌及良性病变中均未检测到BRAFV600E突变。临床病理资料显示,患者发病平均年龄为45岁,突变率在40岁以上者显著高于40以下者(χ2=4.69,P<0.05),而与性别、淋巴结转移、慢性淋巴细胞浸润无显著关系(P<0.05)。结果显示,1)BRAFV600E突变仅发生于PTC和部分未分化癌,是PTC中较常见的遗传学事件,可为PTC的发生机制提供新的视点。2)BRAFV600E突变主要见于经典型PTC和微小癌,可能是甲状腺乳头状癌表型的重要决定因素之一。
文摘Objective To investigate the role of BRAF^V600E mutation in diagnosis of thyroid nodules when it is inconsonant with cytological results.Methods This study included 9837 patients who underwent US-FNA.We mainly analyzed 239 cases with benign or indeterminate cytology,but having a detection of BRAF^V600E mutation.BRAF^V600E mutation analysis was performed using a Amplification Refractory Mutation System Polymerase Chain Reaction.Results In 93 nodules with benign cytology results but positive BRAF^V600E mutation,84 nodules were malignant.Based on the results,US-FNA combined with BRAF^V600E mutation analysis will improve sensitivity(Se=94.03%)and negative predictive value(NPV=2.69%)of the thyroid nodules diagnosis than using US-FNA alone(Se=71.03%,NPV=20.76%).Conclusion BRAFV600E mutation analysis is an important tool in the diagnosis of PTC with high sensitivity and NPV.When facing patients with benign or indeterminate cytology but positive BRAF^V600E mutation,thyroidectomy should be considered.
文摘Background Papillary thyroid carcinoma （PTC） represents one of the most frequent endocrine malignancies. Several factors have been found to be involved in determining the outcome of treatment for patients with PTC. Large tumor size, diagnosis at an early age, extra-thyroidal invasion, aggressive histological variants, and distant metastases are the most important determinants of a poor outcome. BRAF^V600E mutation has been found to be a major genetic alteration in PTC. This study aimed to evaluate progression in patients with multifocal and solitary PTC. Methods We performed a retrospective study to analyze 368 patients with PTC who underwent surgery, including 282 patients with solitary PTC and 86 patients with multifocal PTC. The status ofBRAF^V600E mutation in all tumor foci from multifocal PTC was detected. Results Our study suggested that multifocal PTC was more related to lymph node metastasis and vascular invasion than solitary PTC. However, the distant metastasis rate and 10-year survival rate showed no difference between these two groups. The number of tumor loci did not affect progression of disease in multifocal PTC patients. Lymph node metastasis in multifocal PTC patients was associated with larger tumors, diagnosis at early stage, and extra-thyroidal invasion. Conclusion The status of BRAF^V600Emutation was more frequent in multifocal PTC patients with lymph node metastasis and diagnosis at later age.
