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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。“,”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.