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Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome.

作者信息

Hasani-Ranjbar Shirin, Amoli Mahsa M

机构信息

Endocrinology and Metabolism Research Institute, Shariati Hospital, Tehran University of Medical Sciences, 5th Floor, North Kargar Ave, 14114, Tehran, Iran,

出版信息

Endocrine. 2012 Jan 31. doi: 10.1007/s12020-012-9610-6.

DOI:10.1007/s12020-012-9610-6
PMID:22290487
Abstract
摘要

相似文献

1
Mutation screening of RET proto-oncogene in a family with medullary thyroid carcinoma, marfanoid habitus and pheochromocytoma; from clinically MEN2B to genetically MEN2A syndrome.
Endocrine. 2012 Jan 31. doi: 10.1007/s12020-012-9610-6.
2
RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B.在患有MEN2A和MEN2B的中国大陆家系中，RET原癌基因突变仅限于密码子634和918。
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Increased in vivo phosphorylation of ret tyrosine 1062 is a potential pathogenetic mechanism of multiple endocrine neoplasia type 2B.体内ret酪氨酸1062磷酸化增加是2B型多发性内分泌肿瘤的一种潜在致病机制。
Cancer Res. 2001 Feb 15;61(4):1426-31.
4
Characterization of gene expression induced by RET with MEN2A or MEN2B mutation.由MEN2A或MEN2B突变的RET诱导的基因表达特征
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Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN2A or MEN2B mutation.鉴定对于携带MEN2A或MEN2B突变的原癌基因ret的转化活性至关重要的酪氨酸残基。
Oncogene. 1996 Feb 1;12(3):481-7.
6
RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.地中海地区甲状腺髓样癌患者的RET原癌基因变异：简要报告
Life (Basel). 2023 Jun 6;13(6):1332. doi: 10.3390/life13061332.
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A Novel Double E768D/L790F Mutation Associated with a MEN2B-Like Phenotype.一种与 MEN2B 样表型相关的新型双重 E768D/L790F 突变。
Thyroid. 2021 Feb;31(2):327-329. doi: 10.1089/thy.2019.0472. Epub 2020 Jul 14.
8
Differential effects of leukocyte common antigen-related protein on biochemical and biological activities of RET-MEN2A and RET-MEN2B mutant proteins.白细胞共同抗原相关蛋白对RET-MEN2A和RET-MEN2B突变蛋白的生化及生物学活性的不同影响。
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The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important.2B型多发性内分泌腺瘤病诊断的现实情况：认识独特的外貌特征很重要。
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A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New Germline Deletion.一种具有MEN2A和MEN2B临床特征且与新型胚系缺失相关的新型MEN2综合征。
Case Rep Endocrinol. 2020 Jul 29;2020:4147097. doi: 10.1155/2020/4147097. eCollection 2020.

引用本文的文献

1
Update on the Diagnosis and Management of Medullary Thyroid Cancer: What Has Changed in Recent Years?甲状腺髓样癌诊断与管理的最新进展：近年来有哪些变化？
Cancers (Basel). 2022 Jul 27;14(15):3643. doi: 10.3390/cancers14153643.
2
Changing pattern of pheochromocytoma and paraganglioma in a stable UK population.英国稳定人群中嗜铬细胞瘤和副神经节瘤的变化模式。
Acta Endocrinol (Buchar). 2020 Jan-Mar;16(1):78-85. doi: 10.4183/aeb.2020.78.
3
Overexpression of genes involved in miRNA biogenesis in medullary thyroid carcinomas with RET mutation.
伴有RET突变的甲状腺髓样癌中参与微小RNA生物合成的基因的过表达。
Endocrine. 2014 Nov;47(2):528-36. doi: 10.1007/s12020-014-0204-3. Epub 2014 Feb 26.
4
Metachronous appearance of second malignancies in medullary thyroid carcinoma (MTC) patients: a diagnostic challenge and brief review of the literature.甲状腺髓样癌（MTC）患者第二恶性肿瘤的异时性表现：诊断挑战及文献简述。
Endocrine. 2013 Dec;44(3):610-5. doi: 10.1007/s12020-013-9961-7. Epub 2013 Apr 23.
5
Vandetanib: opening a new treatment practice in advanced medullary thyroid carcinoma.凡德他尼：在晚期甲状腺髓样癌的治疗实践中开辟新局面。
Endocrine. 2013 Oct;44(2):334-42. doi: 10.1007/s12020-013-9943-9. Epub 2013 Apr 14.