Bawek Sawyer J, Wang Eunice S, Green Steven D
Department of Internal Medicine, University at Buffalo, Buffalo, NY, United States.
Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States.
Leuk Res Rep. 2024 May 24;21:100464. doi: 10.1016/j.lrr.2024.100464. eCollection 2024.
Mixed-phenotype acute leukemia (MPAL) is a rare form of leukemia with ambiguous lineage, and there are challenges in accurately diagnosing this entity according to formal criteria. Here we report a case which was initially diagnosed as "AML" based on atypical peripheral blood flow cytometry that was subsequently determined to be B-ALL with rearrangement based on marrow results. Although rearrangements represent a defining genetic abnormality for acute leukemia of ambiguous lineage, this case did not meet the criteria for MPAL based on WHO 2022 criteria. This case highlights the diagnostic challenges of MPAL and the potential limitations of the current classification. We discuss the most appropriate workup and management of these patients and identify areas for future study.
混合表型急性白血病(MPAL)是一种具有模糊谱系的罕见白血病形式,根据正式标准准确诊断该实体存在挑战。在此,我们报告一例最初根据非典型外周血流式细胞术诊断为“急性髓系白血病(AML)”的病例,随后根据骨髓结果确定为伴有重排的B淋巴细胞白血病(B-ALL)。尽管重排是具有模糊谱系的急性白血病的决定性遗传异常,但根据世界卫生组织(WHO)2022标准,该病例不符合MPAL的标准。该病例突出了MPAL的诊断挑战以及当前分类的潜在局限性。我们讨论了这些患者最合适的检查方法和管理措施,并确定了未来研究的领域。