RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC...RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC重排与甲状腺的放射暴露、促炎性反应以及肿瘤的预后有关。针对此靶基因,目前有多种基因治疗方法正在研究过程中,并有望成为肿瘤治疗的新的突破口。展开更多
Objective The aim of this study was to investigate the effects of rearranged during transfection(RET)mutation on the expressions of calcitonin(CTn)and procalcitonin(PCT)in sporadic medullary thyroid carcinoma(SMTC).Me...Objective The aim of this study was to investigate the effects of rearranged during transfection(RET)mutation on the expressions of calcitonin(CTn)and procalcitonin(PCT)in sporadic medullary thyroid carcinoma(SMTC).Methods RET mutation was detected by polymerase chain reaction direct sequencing in 64 cases of SMTC,and the expression levels of CTn and PCT in SMTC tissues were detected using the immunohistochemical streptavidin-perosidase(SP)method.The effect of RET mutations on the expression of CTn and PCT along with its relationship with clinicopathological parameters were analyzed.Results The expression rates of CTn and PCT in SMTC tissues were 90.6%(58/64)and 67.2%(43/64),respectively.CTn and PCT expression were found to be associated with tumor size and lymph node metastasis(P<0.05)but not with gender,age,or tumor capsule invasion(P>0.05).There was a significant correlation between CTn and PCT expression(r=0.269,P=0.041),and the intensity of positive CTn expression was positively correlated with RET mutation(r=0.507,P=0.000).However,PCT expression was not associated with RET mutation(r=0.188,P=0.136).Conclusion High expression of CTn and PCT was associated with the progression of medullary carcinoma,and the intensity of CTn expression was associated with RET mutation.PCT may provide valuable information for the diagnosis and prognosis of SMTC.展开更多
Objective: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the...Objective: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy. Methods: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected. Based on the initial treatment, we identified the risk factors for poor prognosis by univariate and multivariate logistic regression. Then, 4 RET mutation carriers were enrolled for prophylactic thyroidectomy, and their pathological data and follow-up outcomes were recorded. Results: In univariate and multivariate logistic regression analyses, age at initial surgery and risk classification were significant risk factors for stage III/IV hereditary MTC at initial diagnosis. The likelihood was increased by 11.6% per year of age at initial surgery [95% confidence interval (95% CI), 1.040-1.198; P=0.002). It was 7.888 times more likely to have III/IV stage disease for ATA highest risk patients, compared to ATA moderate risk individuals (95% CI, 1.607-38.717; P=0.003). Postoperative pathological results showed all 4 multiple endocrine neoplasia type 2A (MEN2A) patients had C-cell hyperplasia (CCH); multifocal malignancies were detected in 3 of them. All 4 patients were cured biochemically, and none developed permanent hypoparathyroidism. Conclusions: In Chinese individuals, hereditary MTC aggressiveness is in line with the new ATA risk classification. Germline RET gene mutation carriers should undergo prophylactic thyroidectomy according to basal serum calcitonin levels.展开更多
文摘RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC重排与甲状腺的放射暴露、促炎性反应以及肿瘤的预后有关。针对此靶基因,目前有多种基因治疗方法正在研究过程中,并有望成为肿瘤治疗的新的突破口。
基金Supported by a grant from the Gansu Provincial Funding for Health Research(No.GSWSKY2018-13).
文摘Objective The aim of this study was to investigate the effects of rearranged during transfection(RET)mutation on the expressions of calcitonin(CTn)and procalcitonin(PCT)in sporadic medullary thyroid carcinoma(SMTC).Methods RET mutation was detected by polymerase chain reaction direct sequencing in 64 cases of SMTC,and the expression levels of CTn and PCT in SMTC tissues were detected using the immunohistochemical streptavidin-perosidase(SP)method.The effect of RET mutations on the expression of CTn and PCT along with its relationship with clinicopathological parameters were analyzed.Results The expression rates of CTn and PCT in SMTC tissues were 90.6%(58/64)and 67.2%(43/64),respectively.CTn and PCT expression were found to be associated with tumor size and lymph node metastasis(P<0.05)but not with gender,age,or tumor capsule invasion(P>0.05).There was a significant correlation between CTn and PCT expression(r=0.269,P=0.041),and the intensity of positive CTn expression was positively correlated with RET mutation(r=0.507,P=0.000).However,PCT expression was not associated with RET mutation(r=0.188,P=0.136).Conclusion High expression of CTn and PCT was associated with the progression of medullary carcinoma,and the intensity of CTn expression was associated with RET mutation.PCT may provide valuable information for the diagnosis and prognosis of SMTC.
基金supported by the Capital Health Research and Development of Special (No. 2014-2-026)
文摘Objective: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy. Methods: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected. Based on the initial treatment, we identified the risk factors for poor prognosis by univariate and multivariate logistic regression. Then, 4 RET mutation carriers were enrolled for prophylactic thyroidectomy, and their pathological data and follow-up outcomes were recorded. Results: In univariate and multivariate logistic regression analyses, age at initial surgery and risk classification were significant risk factors for stage III/IV hereditary MTC at initial diagnosis. The likelihood was increased by 11.6% per year of age at initial surgery [95% confidence interval (95% CI), 1.040-1.198; P=0.002). It was 7.888 times more likely to have III/IV stage disease for ATA highest risk patients, compared to ATA moderate risk individuals (95% CI, 1.607-38.717; P=0.003). Postoperative pathological results showed all 4 multiple endocrine neoplasia type 2A (MEN2A) patients had C-cell hyperplasia (CCH); multifocal malignancies were detected in 3 of them. All 4 patients were cured biochemically, and none developed permanent hypoparathyroidism. Conclusions: In Chinese individuals, hereditary MTC aggressiveness is in line with the new ATA risk classification. Germline RET gene mutation carriers should undergo prophylactic thyroidectomy according to basal serum calcitonin levels.
