Weinberg Olga K, Zhang Bo, Germans Sharon K, Chen Weina
Division of Hematopathology, Department of Pathology, The University of Texas Southwestern Medical Center, 2230 Inwood Road, Dallas, Texas, 75235, USA.
Division of Hematopathology, Department of Pathology, The University of Texas Southwestern Medical Center, 2230 Inwood Road, Dallas, Texas, 75235, USA.
Semin Diagn Pathol. 2025 May;42(3):150893. doi: 10.1016/j.semdp.2025.150893. Epub 2025 Mar 11.
Mixed phenotype acute leukemias (MPALs) are a heterogeneous group of acute leukemias that show differentiation along more than one lineage. MPAL are rare and account for <5 % of all acute leukemias and demonstrate an inferior prognosis compared with standard acute lymphoblastic or myeloid leukemias. Historically, due to the limited understanding of its underlying pathogenesis, there were no well-established classification schemes, leading to difficulty in both diagnosis and treatment. With the advent of new nomenclature and algorithms, including the European Group for the Immunological Characterization of Leukemias (EGIL) scoring system, World Health Organization (WHO) tumor classification, and International Consensus Classification (ICC), these entities are better defined and there have been significant changes in clinical management. Additionally, an increasing variety of molecular and cytogenetic abnormalities have been recognized, which have improved the diagnostic classifications and may represent important potential therapeutic targets. However, due to its rarity, current evidence and recommendations on the clinical approach to MPAL are largely based on retrospective studies with relatively small cohorts, and it remains a diagnostic and therapeutic dilemma. In this review, we discuss the most updated classifications, genomic complexity, and diagnostic and therapeutic strategies for MPAL.
混合表型急性白血病(MPAL)是一组异质性急性白血病,表现出不止一种谱系的分化。MPAL较为罕见,占所有急性白血病的比例不到5%,与标准急性淋巴细胞白血病或髓系白血病相比,其预后较差。从历史上看,由于对其潜在发病机制的了解有限,没有完善的分类方案,导致诊断和治疗都存在困难。随着新的命名法和算法的出现,包括白血病免疫特征欧洲小组(EGIL)评分系统、世界卫生组织(WHO)肿瘤分类和国际共识分类(ICC),这些实体得到了更好的定义,临床管理也发生了重大变化。此外,越来越多的分子和细胞遗传学异常被识别出来,这改善了诊断分类,并且可能代表重要的潜在治疗靶点。然而,由于其罕见性,目前关于MPAL临床治疗方法的证据和建议很大程度上基于相对较小队列的回顾性研究,它仍然是一个诊断和治疗难题。在这篇综述中,我们讨论了MPAL的最新分类、基因组复杂性以及诊断和治疗策略。