Abstract

Mixed phenotype acute leukemia (MPAL) is a heterogeneous group of leukemias that are defined immunophenotypically by antigen expression on blasts of both myeloid and lymphoid lineage. With the exception of BCR-ABL positive and KMT2A rearranged MPAL, the biology of the majority of MPAL remains uncertain. Several recent studies have explored the genomic and epigenetic landscape of MPAL and have suggested a further refinement of the WHO classification to emphasize the genomic heterogeneity of MPAL. Further studies including single cell analysis, whole exome sequencing and time of flight cytometry will provide for further biological characterization. Treatment decisions are complicated due to this lack of classification and the dearth of prospective randomized studies. Acute lymphoblastic leukemia-type therapy appears to achieve higher remission rates, and allogenic stem cell transplantation may be beneficial in a select group of patients in first complete remission. Multi-center collaborations may answer these questions more conclusively. Our review aims to discuss the diagnostic challenges, recent genomic studies and therapeutic strategies in this poorly understood disease.

摘要

混合表型急性白血病 (MPAL) 是一组异质性白血病，其免疫表型通过髓系和淋巴系原始细胞上的抗原表达来定义。除了BCR-ABL阳性和KMT2A重新排列 MPAL，大多数 MPAL 的生物学仍然不确定。最近的几项研究探索了 MPAL 的基因组和表观遗传景观，并建议进一步完善 WHO 分类以强调 MPAL 的基因组异质性。包括单细胞分析、全外显子组测序和飞行时间细胞计数在内的进一步研究将提供进一步的生物学表征。由于缺乏分类和前瞻性随机研究的缺乏，治疗决策很复杂。急性淋巴细胞白血病类型的治疗似乎获得了更高的缓解率，同种异体干细胞移植可能对首次完全缓解的特定患者有益。多中心合作可能会更确定地回答这些问题。