Genetic diagnosis in acromegaly and gigantism: From research to clinical practice

IF 6.1 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Claudia Ramírez-Rentería (Associate Researcher) , Laura C. Hernández-Ramírez (Associate Researcher)
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引用次数: 0

Abstract

It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.

肢端肥大症和巨人症的基因诊断:从研究到临床实践
通常认为,在所有垂体神经内分泌肿瘤中,只有 5%是由遗传原因引起的。然而,自这一估计被报道以来,导致综合征和非综合征嗜体细胞瘤的多种遗传缺陷已被揭示出来。这种异质性遗传背景导致了 GH 过多的重叠表型。基因检测应该成为治疗渐冻人症和巨人症患者的方法之一,因为基因检测可以完善临床诊断,为针对每位患者的临床治疗提供可能。此外,对高危人群进行基因检测和临床筛查还能在早期及时发现和治疗体细胞营养瘤,从而对疾病的治疗效果产生积极影响。未来的研究应侧重于确定体细胞营养瘤的新基因驱动因素在普通人群中的实际频率,开发最新的疾病特异性多基因面板供临床使用,以及寻找改善全球现代基因检测普及性的策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
11.90
自引率
0.00%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.
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