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RET原癌基因及其突变与疾病相关性 被引量：2

Correlation of RET proto-oncogene and its mutations with diseases
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摘要 RET原癌基因位于10号常染色体长臂(10q11.2),编码一组属于酪氨酸激酶受体超家族的跨膜蛋白即RET蛋白。近年发现RET原癌基因突变与多种疾病的发生、发展及肿瘤侵袭性等方面密切相关,RET受体蛋白有望成为多种肿瘤治疗的靶点。 RET proto-oncogene is mapped to the human chromosome 10 region（10q11.2）,which encodes RET protein,a set of transmembrane proteins,belonging to the tyrosine kinase receptor superfamily.In recent years,the mutations of RET proto-oncogene is found to be involved in the pathogenesis of a variety of diseases as well as the invasiveness of tumors.The RET receptor protein is expected to become a target for the therapy of a variety of specific-tumors.
作者 吴霞 李代强
机构地区 中南大学湘雅二医院病理科
出处 《国际病理科学与临床杂志》 CAS 2012年第5期447-451,共5页 Journal of International Pathology and Clinical Medicine
关键词 RET基因 突变 酪氨酸激酶受体 疾病 RET gene mutations tyrosine kinase receptor diseases
分类号 R730.2 [医药卫生—肿瘤]
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参考文献33

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  • 2de Groot JW, Links TP, Plukker JT, et al. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors [J].Endocr Rev, 2006, 27(5):535-560.
  • 3Frank-Raue K, Rondot S, Raue F. Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC [J]. Mol Cell Endocrinol, 2010, 322(1/2):2-7.
  • 4Kouvaraki MA, Shapiro SE, Perrier ND, et al. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors [J]. Thyroid, 2005, 15(6):531- 544.
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  • 7Machens A, Lorenz K, Dralle H. Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities [J]. J Intern Med, 2009, 266(1):114- 12S.
  • 8Colombo-Benkmann M, Li Z, Riemann B, et al. Characterization of the RET proto-oncogene transmembrane domain mutation $649L associated with non aggressive medullary thyroid Carcinoma[J]. Eur J Endocrinol, 2008, 158(6):S11-S16.
  • 9Plaza MI, Koster R, van der Sloot AM, et al. RET-familial medullary thyroid carcinoma mutants Y791F and $891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor [J]. Cancer Res, 2005, 65(5):1729-1737.
  • 10Clowes VE, Shaw-Smith C, Simpson H, et al. MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours [J]. Clin Endocrinol (Oxf), 2008, 68(4):666-667.

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国际病理科学与临床杂志
2012年 第5期

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