甲状腺髓样癌的诊断与筛查
摘要
大部分遗传性甲状腺髓样癌的患者具有ret原癌基因的突变,因此对有遗传倾向的个体进行基因检测,就可进行早期诊断与筛查,并有利于早期治疗,改善预后。本文主要阐述了目前已发现的ret原癌基因的突变与甲状腺髓样癌的关系,并探讨基因检测在甲状腺髓样癌早期诊断中的应用,以及甲状腺髓样癌的诊断方法。
出处
《国外医学（内分泌学分册）》
2003年第B04期37-39,共3页
Foreign Medical Sciences(Section of Endocrinology)
参考文献11
-
1Braverman L E, Vtiger R E, eds. Wemer and ingbar's the thyroid[M].Philadelphia: Lippincott Williams Wilkins,2000,930-943.
-
2Falk A, ed. Thyroid diseases:endocrinology,surgery,nuclear medicine and radiotherapy,2nd Edition[M]. Philadelphia: Lippincott Raven,1997:619-644.
-
3Ponder B A. The phenotypes associated with ret mutationsin multiple endocrine neoplasia type 2 syndrome[J].Cancer Res,1999,59(7 suppl):S1736-S1742.
-
4Berndt I,Reuter M,Saller B,et al. A new hot spot formutations in the ret proto-oncogene causing familial medullary carcinoma andmultiple endocrine neoplasia type 2A[J].J Clin Endocrinol Metab,1998,83:770-774.
-
5Eng C,Clayton D,Schuffenecker I,et al. The relationshipbetween specific RET proto-oncogene mutation and disease phenotype in multipleendocrine neoplasia type 2: International RET Mutation Consortium Analysis[J].JAMA,1996,276:1575-1579.
-
6Hofstra R M V,Fattoruso O,Quadro L,et al. A novel pointmutation in the intracellular domain of the ret proto-oncogene in a familywith medullary thyroid carcinoma[J].J Clin Endocrinol Metab,1997,82:4176-4178.
-
7Francesca L, Eeric B,Eeusebio C,et al. Familialmedullary thyroid carcinoma:clinical variability and low aggressivenessassociated with RET mutation at codon 804[J].J Clin Endocrinol Metab,2002,87:1674-1680.
-
8Barbara P,Roberta R,Maria R A,et al. RET mutationprofile and variable clinical manifestations in a family with multipleendocrine neoplasia type 2A and Hirschsprung's disease[J].Surgery,2002,131:373-381.
-
9Kroustrup J P,Laurberg P,Madsen P H. Rapid MEN 2A gene carrier identification using primer-specific PCR amplification[J].Scand J Clin Lab Invest,1999,59:643-647.
-
10Wohllk N, Cote G J, Evans D B, et al. Application ofgenetic screening information to the management of medullary thyroidcarcinoma and multiple endocrine neoplasia type 2[J].Endocrinol Metab Clin North Am,1996,25:1-25.
-
1龚艳萍,朱精强,龚日祥,李志辉,魏涛.两个遗传性甲状腺髓样癌家系的基因检测及手术治疗[J].中华医学遗传学杂志,2016,33(2):272-273. 被引量：1
-
2马维昌,代文杰.遗传性甲状腺髓样癌的诊断及外科处理[J].外科理论与实践,2013,18(6):586-589. 被引量：2
-
3陈宇,李娟.家族性甲状腺髓样癌的基因相关性研究[J].国际遗传学杂志,2011,34(3):157-161. 被引量：3
-
4董立国,蒲永东,何建苗.遗传性甲状腺髓样癌的诊断及治疗[J].中国优生与遗传杂志,2008,16(12):117-118. 被引量：1
-
5张溪微,张彬.遗传性甲状腺髓样癌的临床特点及处理[J].国际耳鼻咽喉头颈外科杂志,2015,39(6):357-361.
-
6张刚,郝帅,江军,袁文强,黄灶明,张军,罗东林,徐琰.遗传性甲状腺髓样癌MEN2A家系的临床诊治分析[J].中国医药导报,2016,13(15):30-34. 被引量：1
-
7郑敏,李春艳,成小松.RET原癌基因与遗传性甲状腺髓样癌关系的研究进展[J].国外医学（遗传学分册）,2002,25(1):43-47. 被引量：10
-
8陈大明,代文杰,吴舰宇,赵勇,吴耀华,朱化强.遗传性甲状腺髓样癌的基因学基础及诊断治疗[J].中华内分泌外科杂志,2011,5(2):125-127. 被引量：2
-
9黄任平,宋春芳,代文杰.家族性甲状腺癌诊治进展[J].中国实用外科杂志,2007,27(9):750-752. 被引量：4
-
10姜晓华,蔡洁,叶蕾,王曙,赵咏桔,王卫庆,宁光.甲状腺髓样癌的临诊应对[J].中华内分泌代谢杂志,2012,28(5):433-438. 被引量：4
