与儿童高级别胶质瘤相关的癌症易感性综合征
Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.
作者信息
Ceglie Giulia, Del Baldo Giada, Agolini Emanuele, Rinelli Martina, Cacchione Antonella, Del Bufalo Francesca, Vinci Maria, Carta Roberto, Boccuto Luigi, Miele Evelina, Mastronuzzi Angela, Locatelli Franco, Carai Andrea
机构信息
Department of Pediatric Hematology/Oncology and Cell and Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital, Rome, Italy.
Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital, Rome, Italy.
出版信息
Front Pediatr. 2020 Nov 12;8:561487. doi: 10.3389/fped.2020.561487. eCollection 2020.
Pediatric High-Grade Gliomas (pHGG) are among the deadliest childhood brain tumors and can be associated with an underlying cancer predisposing syndrome. The thorough understanding of these syndromes can aid the clinician in their prompt recognition, leading to an informed genetic counseling for families and to a wider understanding of a specific genetic landscape of the tumor for target therapies. In this review, we summarize the main pHGG-associated cancer predisposing conditions, providing a guide for suspecting these syndromes and referring for genetic counseling.
小儿高级别胶质瘤（pHGG）是最致命的儿童脑肿瘤之一，可能与潜在的癌症易感综合征有关。对这些综合征的深入了解有助于临床医生迅速识别，从而为家庭提供明智的遗传咨询，并更广泛地了解肿瘤的特定基因特征以进行靶向治疗。在本综述中，我们总结了与pHGG相关的主要癌症易感情况，为怀疑这些综合征并寻求遗传咨询提供指导。
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