甲状腺癌相关基因检测进展及意义
摘要
<正>甲状腺癌是近年来发生率提高最快的内分泌系统的恶性肿瘤,21世纪以来其发病率在全世界范围内逐步上升~([1])。在我国范围内,根据2015年癌症统计显示,甲状腺癌在女性人群恶性肿瘤发生率上升到第6位,同时在<30岁的女性中成为发生率排名第一的恶性肿瘤~([2])。甲状腺癌通常分为甲状腺乳头状癌(PTC),甲状腺滤泡状癌(FTC),滤泡旁细胞(C细胞)来源的甲状腺髓样癌(MTC),以及预后
引文
[1]O'Grady TJ,Gates MA,Boscoe FP.Thyroid cancer incidence attributable to overdiagnosis in the United States 1981-2011[J].Int J Cancer,2015,137(11):2664-2673.
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[16]Isaeva AV,Zima AP,Saprina TV,et al.Comparative evaluation ofβ-catenin and e-cadherin expression in liquid aspiration biopsy specimens of thyroid nodules[J].Bull Exp Biol Med,2016,161(2):288-291.
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[25]Heidenreich B,Rachakonda PS,Hemminki K,et al.TERT promoter mutations in cancer development[J].Curr Opin Genet Dev,2014,24:30-37.
[26]Liu X,Bishop J,Shan Y,et al.Highly prevalent TERT promoter mutations in aggressive thyroid cancers[J].Endocr Relat Cancer,2013,20(4):603-610.
[27]Landa I,Ganly I,Chan TA,et al.Frequent somatic TERT promoter mutations in thyroid cancer:higher prevalence in advanced forms of the disease[J].J Clin Endocrinol Metab,2013,98(9):E1562-E1566.
[28]Nikiforov YE.Role of molecular markers in thyroid nodule management:then and now[J].Endocr Pract,2017,23(8):979-988.
[29]Kroll TG,Sarraf P,Pecciarini L,et al.PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma[corrected][J].Science,2000,289(5483):1357-1360.
[30]French CA,Alexander EK,Cibas ES,et al.Genetic and biological subgroups of low-stage follicular thyroid cancer[J].Am JPathol,2003,162(4):1053-1060.
[31]Tavares C,Melo M,Cameselle-Teijeiro JM,et al.Endocrine tumours:Genetic predictors of thyroid cancer outcome[J].Eur JEndocrinol,2016,174(4):R117-126.
[32]Raman P,Koenig RJ.Pax-8-PPAR-γfusion protein in thyroid carcinoma[J].Nat Rev Endocrinol,2014,10(10):616-623.
[33]Placzkowski KA,Reddi HV,Grebe SK,et al.The role of the PAX8/PPARgamma fusion oncogene in thyroid cancer[J].PPAR Res,2008,2008:672829.
[34]Guerra A,Di Crescenzo V,Garzi A,et al.Genetic mutations in the treatment of anaplastic thyroid cancer:a systematic review[J].BMC Surg,2013,13(suppl 2):44.
[35]Nozhat Z,Hedayati M.PI3K/AKT pathway and its mediators in thyroid carcinomas[J].Mol Diagn Ther,2016,20(1):13-26.
[36]Kong Y,Yin J,Fu Y,et al.Suppression of Elk1 inhibits thyroid cancer progression by mediating PTEN expression[J].Oncol Rep,2018,40(3):1769-1776.
[37]孙辉,刘晓莉.甲状腺癌规范化诊治理念更新及其意义[J].中国实用外科杂志,2015,35(1):72-75.
[2]Chen W,Zheng R,Baade PD,et al.Cancer statistics in China,2015[J].CA Cancer J Clin,2016,66(2):115-132.
[3]Pellegriti G,Frasca F,Regalbuto C,et al.Worldwide increasing incidence of thyroid cancer:update on epidemiology and risk factors[J].J Cancer Epidemiol,2013,2013:965212.
[4]田文,姚京.重视甲状腺结节规范化诊治[J].中国实用外科杂志,2015,35(6):579-583.
[5]Liu M,Ruan M,Chen L.Update on the molecular diagnosis and targeted therapy of thyroid cancer[J].Med Oncol,2014,31(6):973.
[6]Nikiforov YE.Thyroid carcinoma:molecular pathways and therapeutic targets[J].Mod Pathol,2008,21(suppl 2):37-43.
[7]LiVolsi VA.Papillary thyroid carcinoma:an update[J].Mod Pathol,2011,24(suppl 2):S1-9.
[8]Jung CK,Im SY,Kang YJ,et al.Mutational patterns and novel mutations of the BRAF gene in a large cohort of Korean patients with papillary thyroid carcinoma[J].Thyroid,2012,22(8):791-797.
[9]Xing M.BRAF mutation in thyroid cancer[J].Endocr Relat Cancer,2005,12(2):245-262.
[10]Wan PT,Garnett MJ,Roe SM,et al.Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF[J].Cell,2004,116(6):855-867.
[11]Huang Y,Qu S,Zhu G,et al.BRAF V600E mutation-assisted risk stratification of solitary intrathyroidal papillary thyroid cancer for precision treatment[J].J Natl Cancer Inst,2018,110(4):362-370.
[12]王波,赵文新.ret/PTC3基因重排在甲状腺癌中的作用机制及其研究进展[J].中华实验外科杂志,2013,30(10):2241-2242.
[13]Nikiforov YE,Nikiforova MN.Molecular genetics and diagnosis of thyroid cancer[J].Nat Rev Endocrinol,2011,7(10):569-580.
[14]Garcia-Rostan G,Zhao H,Camp RL,et al.ras mutations are associated with aggressive tumor phenotypes and poor prognosis in thyroid cancer[J].J Clin Oncol,2003,21(17):3226-3235.
[15]Patel KN,Singh B.Genetic considerations in thyroid cancer[J].Cancer Control,2006,13(2):111-118.
[16]Isaeva AV,Zima AP,Saprina TV,et al.Comparative evaluation ofβ-catenin and e-cadherin expression in liquid aspiration biopsy specimens of thyroid nodules[J].Bull Exp Biol Med,2016,161(2):288-291.
[17]Garcia-Rostan G,Camp RL,Herrero A,et al.Beta-catenin dysregulation in thyroid neoplasms:down-regulation,aberrant nuclear expression,and CTNNB1 exon 3 mutations are markers for aggressive tumor phenotypes and poor prognosis[J].Am JPathol,2001,158(3):987-996.
[18]Pierotti MA,Greco A.Oncogenic rearrangements of the NTRK1/NGF receptor[J].Cancer Lett,2006,232(1):90-98.
[19]Giordano TJ,Kuick R,Thomas DG,et al.Molecular classification of papillary thyroid carcinoma:distinct BRAF,RAS,and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis[J].Oncogene,2005,24(44):6646-6656.
[20]Toole JF,Malinow MR,Chambless LE,et al.Lowering homocysteine in patients with ischemic stroke to prevent recurrent stroke,myocardial infarction,and death:the Vitamin Intervention for Stroke Prevention(VISP)randomized controlled trial[J].JAMA,2004,291(5):565-575.
[21]Domfeh AB,Carley AML,Striebel JM,et al.WT1 immunoreactivity in breast carcinoma:selective expression in pure and mixed mucinous subtypes[J].Mod Pathol,2008,21(10):1217-1223.
[22]陈曦,李宏为.遗传性甲状腺癌[J].中国实用外科杂志,2010,30(10):828-830.
[23]Fisher SB,Cote GJ,Bui-Griffith JH,et al.Genetic characterization of medullary thyroid cancer in childhood survivors of the chernobyl accident[J].Surgery,2019,165(1):58-63.
[24]Martínez P,Blasco MA.Telomeric and extra-telomeric roles for telomerase and the telomere-binding proteins[J].Nat Rev Cancer,2011,11(3):161-176.
[25]Heidenreich B,Rachakonda PS,Hemminki K,et al.TERT promoter mutations in cancer development[J].Curr Opin Genet Dev,2014,24:30-37.
[26]Liu X,Bishop J,Shan Y,et al.Highly prevalent TERT promoter mutations in aggressive thyroid cancers[J].Endocr Relat Cancer,2013,20(4):603-610.
[27]Landa I,Ganly I,Chan TA,et al.Frequent somatic TERT promoter mutations in thyroid cancer:higher prevalence in advanced forms of the disease[J].J Clin Endocrinol Metab,2013,98(9):E1562-E1566.
[28]Nikiforov YE.Role of molecular markers in thyroid nodule management:then and now[J].Endocr Pract,2017,23(8):979-988.
[29]Kroll TG,Sarraf P,Pecciarini L,et al.PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma[corrected][J].Science,2000,289(5483):1357-1360.
[30]French CA,Alexander EK,Cibas ES,et al.Genetic and biological subgroups of low-stage follicular thyroid cancer[J].Am JPathol,2003,162(4):1053-1060.
[31]Tavares C,Melo M,Cameselle-Teijeiro JM,et al.Endocrine tumours:Genetic predictors of thyroid cancer outcome[J].Eur JEndocrinol,2016,174(4):R117-126.
[32]Raman P,Koenig RJ.Pax-8-PPAR-γfusion protein in thyroid carcinoma[J].Nat Rev Endocrinol,2014,10(10):616-623.
[33]Placzkowski KA,Reddi HV,Grebe SK,et al.The role of the PAX8/PPARgamma fusion oncogene in thyroid cancer[J].PPAR Res,2008,2008:672829.
[34]Guerra A,Di Crescenzo V,Garzi A,et al.Genetic mutations in the treatment of anaplastic thyroid cancer:a systematic review[J].BMC Surg,2013,13(suppl 2):44.
[35]Nozhat Z,Hedayati M.PI3K/AKT pathway and its mediators in thyroid carcinomas[J].Mol Diagn Ther,2016,20(1):13-26.
[36]Kong Y,Yin J,Fu Y,et al.Suppression of Elk1 inhibits thyroid cancer progression by mediating PTEN expression[J].Oncol Rep,2018,40(3):1769-1776.
[37]孙辉,刘晓莉.甲状腺癌规范化诊治理念更新及其意义[J].中国实用外科杂志,2015,35(1):72-75.