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一例具有MYC和MECOM重排的复发性急性髓系白血病病例

A Relapsed AML Case Featuring MYC and MECOM Rearrangements.

作者信息

Murgas Kevin A, Materum Pons, Li Luke Z, Rocha Jacob, Schuster Michael, Ahmed Tahmeena, Tirado Carlos A

机构信息

Medical Scientist Training Program, Stony Brook University Renaissance School of Medicine, Stony Brook, NY 11794, USA.

Department of Pathology, Stony Brook University Hospital, Stony Brook, NY 11794, USA.

出版信息

Diagnostics (Basel). 2025 Sep 22;15(18):2410. doi: 10.3390/diagnostics15182410.

Abstract

Relapsed acute myeloid leukemia (AML) is often characterized by clonal evolution and acquired genomic abnormalities, which can inform prognosis and direct therapeutic decisions. The emergence of high-risk chromosomal rearrangements during relapse is of particular significance, yet the impact of rare and complex events remains poorly understood. This report details a case of relapsed AML that demonstrated rare and rearrangements and additional features that were not observed at initial diagnosis, emphasizing the clinical relevance of serial cytogenetic assessments. A 70-year-old man was initially diagnosed with AML, exhibiting monocytic differentiation, an 11q23 deletion involving loss, and a mutation. After achieving remission with azacitidine and venetoclax, the patient relapsed within ten months, necessitating reevaluation and modification of therapy. Repeat cytogenetic analysis at relapse revealed a distinct t(3;8)(q26.2;q24.3) exhibiting and rearrangements, features that were absent at initial diagnosis. This case underscores the importance of serial cytogenetic and molecular profiling in relapsed AML. The emergence of new abnormalities upon relapse suggested underlying genomic instability and clonal evolution. rearrangements are notably rare in AML, especially with concurrent rearrangements, highlighting a unique feature of this case. The identification of novel abnormalities at relapse may carry prognostic and therapeutic significance and may be used to refine risk stratification. Thus, ongoing cytogenetic monitoring is essential to adapt management approaches in evolving disease contexts.

摘要

复发性急性髓系白血病(AML)通常具有克隆进化和获得性基因组异常的特征,这些特征可用于指导预后和治疗决策。复发期间高危染色体重排的出现具有特别重要的意义,但罕见和复杂事件的影响仍知之甚少。本报告详细介绍了一例复发性AML病例,该病例显示出罕见的重排以及初诊时未观察到的其他特征,强调了系列细胞遗传学评估的临床相关性。一名70岁男性最初被诊断为AML,表现为单核细胞分化、涉及缺失的11q23缺失和一个突变。在使用阿扎胞苷和维奈克拉达到缓解后,患者在十个月内复发,需要重新评估和调整治疗方案。复发时的重复细胞遗传学分析显示出一种独特的t(3;8)(q26.2;q24.3),表现出重排,这些特征在初诊时并不存在。该病例强调了系列细胞遗传学和分子谱分析在复发性AML中的重要性。复发时新异常的出现提示潜在的基因组不稳定性和克隆进化。重排在AML中明显罕见,尤其是同时伴有重排时,突出了该病例的独特特征。复发时新异常的识别可能具有预后和治疗意义,可用于完善风险分层。因此,持续的细胞遗传学监测对于在不断变化的疾病背景下调整管理方法至关重要。

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