期刊导航

论文摘要

儿童急性B前体淋巴细胞白血病新遗传学亚型分类的研究进展

Research progress on classifications of new genetic subtypes of childhood B cell precursor acute lymphoblastic leukemia

作者:

Author:

收稿日期:2020-03-10          年卷(期)页码:2020,43(06):543-547

期刊名称:国际输血及血液学杂志

Journal Name:International Journal of Blood Transfusion and Hematology

关键字:前体细胞淋巴母细胞白血病淋巴瘤,前体B细胞淋巴细胞白血病-淋巴瘤,基因融合,危险因素,遗传学亚型,儿童

Key words:Precursor cell lymphoblastic leukemia-lymphoma|Precursor B-cell lymphoblastic leukemia-lymphoma|Gene fusion|Risk factor|Genetic subtypes|Child

基金项目:

中文摘要

急性B前体淋巴细胞白血病(BCP-ALL)是儿童常见血液系统肿瘤,虽然该病已可有效治疗,但是患儿一旦出现复发或者难治,则通常预后不良,其长期存活率极低。根据传统的遗传学检测方法,可将BCP-ALL分为6种遗传学亚型,但是仍有20%~30% BCP-ALL患儿不能归类为这6种亚型。全基因组测序等现代高分辨率遗传学检测技术的发展,使BCP-ALL新遗传学亚型分类取得新进展,这有助于更精准地对患儿进行危险度分层及靶向治疗,进而探索精准化治疗方案。笔者拟就BCP-ALL新遗传学亚型、未归类的其他B-急性髓细胞白血病(ALL)亚型、新发现治疗相关BCP-ALL亚型的遗传学特点、诊断、治疗及预后等相关内容的研究进展进行综述。

英文摘要

Precursor B cell acute lymphoblastic leukemia (BCP-ALL) is a common hematological malignancy in children. Although effective treatment has been available, the prognosis is poor and long-term survival rate is still extremely low in children with relapsed or refractory BCP-ALL. BCP-ALL has been classified into 6 subtypes by traditional genetic methods, but there is still 20%-30% of the BCP-ALL children without known molecular features. As the development of modern high-resolution genetic testing technique such as whole-genome, breakthroughs has been made in new cytogenetic subtypes of BCP-ALL, which is conducive to more accurate risk stratification and the discovery of targeted lesions, and explore precision treatment methods for clinical practice. This paper reviews the research progress of genetic characteristics, diagnosis, treatment and prognosis of new genetic subtypes of BCP-ALL, B-other acute lymphoblastic leukemia (ALL) subtypes not classified, and newly discovered therapy-related subtypes.

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