Institute of Hematology, Davidoff Cancer Center, Rabin Medical Center, Petah Tikva, Israel.
Departement of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA.
Curr Opin Hematol. 2020 Mar;27(2):95-102. doi: 10.1097/MOH.0000000000000570.
Mixed phenotype acute leukemia (MPAL) encompasses a rare group of clinically, immunophenotypically, and genetically diverse leukemias. Diagnosing and treating these patients remains challenging. In recent years, systematic efforts have been made to better define the genetic landscape of MPAL. These insights allow better understanding of the pathophysiology of MPAL, have the potential for a more biologically meaningful classification and may promote targeted, novel approaches to treat these leukemias.
Recent studies suggest that MPALs originate in a multipotent primitive cell, demonstrate large genetic diversity and include subgroups that may benefit from targeted therapy. Recent data support the use of ALL-type induction followed by allogeneic stem cell transplantation in first remission for most adults. Novel targeted approaches hold promise for treatment of MPAL; however, some may unpredictably select for clonal expansion of cells from a different lineage than observed at presentation.
A biologically and genetically driven classification of MPAL may yield more accurate prognosis and potentially direct therapy in patients with MPAL. Prospective efforts that incorporate targeted approaches based on genetics and immunophenotype are warranted.
混合表型急性白血病（MPAL）包含一组罕见的临床上、免疫表型上和遗传上具有异质性的白血病。诊断和治疗这些患者仍然具有挑战性。近年来，人们系统地努力更好地定义 MPAL 的遗传特征。这些见解有助于更好地理解 MPAL 的病理生理学，有可能进行更具生物学意义的分类，并可能促进针对这些白血病的靶向、新方法。
最近的研究表明，MPAL 起源于多能原始细胞，表现出较大的遗传多样性，并包括可能受益于靶向治疗的亚组。最近的数据支持大多数成年人在首次缓解时采用 ALL 型诱导，随后进行同种异体干细胞移植。新型靶向方法有望治疗 MPAL；然而，一些方法可能会不可预测地选择与初始表现不同的谱系的细胞进行克隆扩增。
基于生物学和遗传学的 MPAL 分类可能为 MPAL 患者提供更准确的预后，并可能指导治疗。需要有前瞻性的努力，根据遗传学和免疫表型纳入靶向方法。
