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我们对儿童白血病分子遗传学认识的进展如何促成了针对这些疾病的更有效的靶向治疗?

How have advances in our understanding of the molecular genetics of paediatric leukaemia led to improved targeted therapies for these diseases?

作者信息

Szychot Elwira, Brodkiewicz Andrzej, Peregud-Pogorzelski Jarosław

机构信息

Haematology and Oncology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Department of Pediatrics, Nephrology with Dializotheraphy and Management of Acute Poisoning, Pomeranian Medical University, Szczecin, Poland.

出版信息

Adv Clin Exp Med. 2014 May-Jun;23(3):469-74. doi: 10.17219/acem/37148.

DOI:10.17219/acem/37148
PMID:24979521
Abstract

The term "leukaemia" refers to a large and heterogenous group of diseases, with treatment response and outcome dependent on the specific type of malignancy. New molecular methods allow us to specifically evaluate the type of disorder, and provide treatment of necessary intensity. The aim of this review is to provide insight into the progress in leukaemia treatment that had been possible due to advances in molecular genetics over the last few decades. Those new sophisticated diagnostic methods have allowed us not only to predict patients' prognosis but also to provide a specific therapy depending on the molecular and genetic characteristics of patients. Our review is based on 25 articles regarding novel diagnostic and therapeutic methods as well as prognostic factors, released between 1992 and 2011. Those articles focus mostly on molecular and cytogenetic testing allowing revolutionary methods of patient classification and individual therapy for this highly heterogeneous group of disorders. Implementation of molecular genetic testing to evaluate the type of leukaemia allowed paediatric oncologists and haematologists to adjust the intensity of treatment, improve outcome, minimize toxicity of therapies and considerably lower the risk of side effects. In the last few decades there has been a great improvement in survival among children suffering from haematopoietic malignancies. Progress made in molecular genetics allowed the creation of new treatment protocols that are designed to maintain a high cure rate for children with leukaemia while reducing toxicity.

摘要

“白血病”一词指的是一大类异质性疾病,其治疗反应和结果取决于恶性肿瘤的具体类型。新的分子方法使我们能够具体评估疾病类型,并提供必要强度的治疗。本综述的目的是深入了解过去几十年来由于分子遗传学进展而在白血病治疗方面取得的进展。那些新的精密诊断方法不仅使我们能够预测患者的预后,还能根据患者的分子和遗传特征提供特定的治疗。我们的综述基于1992年至2011年间发表的25篇关于新型诊断和治疗方法以及预后因素的文章。这些文章主要关注分子和细胞遗传学检测,这些检测允许采用革命性的方法对这一高度异质性疾病群体进行患者分类和个体化治疗。实施分子遗传学检测以评估白血病类型,使儿科肿瘤学家和血液学家能够调整治疗强度、改善治疗结果、将治疗毒性降至最低,并显著降低副作用风险。在过去几十年中,患有造血系统恶性肿瘤的儿童的生存率有了很大提高。分子遗传学取得的进展使得能够制定新的治疗方案,旨在在降低毒性的同时保持白血病患儿的高治愈率。

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