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扩展诊断标准:伴有t(v;11q23)重排的多器官T细胞/髓系混合表型急性白血病经异基因干细胞移植成功治疗。

Expanding diagnostic criteria: Multiorgan T-Cell/myeloid mixed phenotype acute leukemia with t(v;11q23) -rearrangement successfully treated by allogeneic stem cell transplant.

作者信息

Syed Suhayb, Song Amy, Hussaini Mohammad

机构信息

University of South Florida, Tampa, FL, United States.

Rutgers New Jersey Medical School, Newark, NJ, United States.

出版信息

Leuk Res Rep. 2022 Mar 24;17:100306. doi: 10.1016/j.lrr.2022.100306. eCollection 2022.

Abstract

Mixed phenotype acute leukemia (MPAL) consists of a leukemia of two different lineages (myeloid, T, and/or B) co-occurring in the same tissue. KMT2A-rearrangement is rare and usually seen in B/myeloid MPAL. We report a unique case of T/myeloid MPAL with a t(v;11q23) KMT2A-rearrangement, with acute myeloid leukemia (AML) in the bone marrow but concurrent T-cell acute lymphoblastic leukemia (T-ALL) in lymph node and skin. Genomic interrogation suggests an undifferentiated stem cells with KMT2A rearrangement as the founder mutation that acquired additional lineage-specific mutations resulting in AML in the marrow and T-ALL in other sites.

摘要

混合表型急性白血病(MPAL)由同一组织中同时出现的两种不同谱系(髓系、T 系和/或 B 系)的白血病组成。KMT2A 重排较为罕见,通常见于 B/髓系 MPAL。我们报告了一例独特的 T/髓系 MPAL 病例,伴有 t(v;11q23) KMT2A 重排,骨髓中为急性髓系白血病(AML),但淋巴结和皮肤中同时存在 T 细胞急性淋巴细胞白血病(T-ALL)。基因组分析提示,具有 KMT2A 重排的未分化干细胞作为起始突变,随后获得了其他谱系特异性突变,导致骨髓中出现 AML,其他部位出现 T-ALL。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b479/8958533/5e506ef54cb9/gr1.jpg

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