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基因筛查信息在甲状腺髓样癌和2型多发性内分泌腺瘤病管理中的应用。

Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2.

作者信息

Wohllk N, Cote G J, Evans D B, Goepfert H, Ordonez N G, Gagel R F

机构信息

Section of Endocrinology, Division of Surgery, University of Texas, Houston, USA.

出版信息

Endocrinol Metab Clin North Am. 1996 Mar;25(1):1-25. doi: 10.1016/s0889-8529(05)70310-8.

Abstract

Application of RET proto-oncogene mutation analysis to the clinical management of MEN 2 and FMTC has simplified and enhanced the power of earlier used screening and treatment efforts for hereditary MTC. The approaches outlined herein are cost-effective, have improved diagnostic accuracy, and hold the promise of improved cure rates for this neoplasm. Further studies to elucidate the mechanism by which these activating mutations cause transformation may lead to other strategies for prevention or treatment of this neoplasm.

摘要

RET原癌基因突变分析在MEN 2和FMTC临床管理中的应用简化并增强了早期用于遗传性MTC的筛查和治疗手段的效能。本文概述的方法具有成本效益,提高了诊断准确性,并有望提高这种肿瘤的治愈率。进一步研究以阐明这些激活突变导致肿瘤转化的机制,可能会带来预防或治疗这种肿瘤的其他策略。

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