Lorente-Ros Marta, Andrés Ane Miren, Sánchez-Galán Alba, Amiñoso Cinthia, García Sixto, Lapunzina Pablo, Solera García Jesús
Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España.
Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Departamento de Cirugía Pediátrica, Hospital Universitario La Paz, Madrid, España.
An Pediatr (Engl Ed). 2020 Oct;93(4):222-227. doi: 10.1016/j.anpedi.2019.05.019. Epub 2020 Jan 23.
Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications.
Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013.
We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature.
The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.
先天性巨结肠病是由神经嵴细胞向胃肠道迁移受损引起的，导致肌间神经丛中神经元缺失。多个基因中的许多突变与先天性巨结肠病相关；其中大多数影响RET原癌基因通路。本研究的目的是描述与先天性巨结肠病相关基因中的新突变和已知突变及其预后意义。
对1970年至2013年评估的先天性巨结肠病患者和基因研究阳性患者进行回顾性分析。
我们在全球系列研究中发现了21项基因研究阳性，其中17项涉及RET原癌基因。其中两个突变是新的，尚未在医学文献中报道。
RET原癌基因是与先天性巨结肠病相关的主要基因。仍有多个与该疾病发病机制相关的未知突变。对该基因的研究必须成为所有先天性巨结肠病患者以及如果突变与MEN2A和MEN2B综合征相关的其一级亲属检查工作的一部分。
