急性淋巴细胞白血病移植后继发供者细胞来源的慢性粒单核细胞白血病1例并文献复习

A Case of Donor Cell-Derived Chronic Myelomonocytic Leukemia Following Acute Lymphoblastic Leukemia Transplantation with Literature Review

摘要: 目的：探讨1例罕见急性淋巴细胞白血病(ALL)患者行异基因造血干细胞移植(allo-HSCT)后继发供者细胞来源的慢性粒单核细胞白血病(CMML)病例复习。方法：详细回顾本院1例B-ALL患者进行细胞形态学、免疫学、细胞遗传学、分子生物学(MICM)检测并治疗缓解后进行allo-HSCT后继发供者细胞来源的CMML的诊治过程进行联合分析和文献复习。结果：2020年1月患者因腹痛起病，经MICM检查确诊为高危型B-ALL，伴E2A-PBX1融合基因阳性，经VDCLP方案诱导缓解及多疗程巩固化疗后复发，于2020年9月行allo-HSCT (同胞全相合供者)，移植后4年余(2025年1月)出现双下肢无力，血常规及骨髓检查提示原始细胞、单核细胞增多伴病态造血，基因检测发现JAK2 V617F突变，最终诊断为CMML，经VA方案(阿扎胞苷 + 维奈克拉)治疗后病情稳定。结论：本案例证实异基因造血干细胞移植后供者细胞可发生恶性转化导致供者细胞来源的慢性粒单核细胞白血病，其发生可能与治疗相关的克隆演化、供者源性隐匿性克隆造血或免疫监视失衡有关。移植后长期存活者出现血细胞异常时，应进行全面细胞遗传学和分子学检测以鉴别疾病复发与继发肿瘤，强化移植后终身随访对于早期发现和管理此类罕见并发症至关重要。

Abstract: Objective: To explore and review a case of rare chronic myelomonocytic leukemia (CMML) of donor cell-derived that occurred secondary to allogeneic hematopoietic stem cell transplantation (allo-HSCT) in a patient with acute lymphoblastic leukemia (ALL). Methods: A comprehensive review and literature analysis were conducted on the diagnosis and treatment process of a patient with B-cell acute lymphoblastic leukemia (B-ALL) in our hospital. This patient first underwent Morphology, Immunology, Cytogenetics, and Molecular Biology (MICM) testing, achieved remission after treatment, and then developed donor cell-derived CMML subsequent to allo-HSCT. Results: In January 2020, the patient presented with abdominal pain as the initial symptom. Through Morphology, Immunology, Cytogenetics, and Molecular Biology (MICM) testing, the patient was diagnosed with high-risk B-ALL with positive E2A-PBX1 fusion gene. After achieving induction remission with the VDCLP regimen and undergoing multiple courses of consolidation chemotherapy, the disease relapsed. In September 2020, the patient received allo-HSCT from a fully matched sibling donor. More than 4 years after transplantation (January 2025), the patient developed weakness in both lower limbs. Routine blood tests and bone marrow examinations showed an increase in blasts and monocytes accompanied by myelodysplasia. Genetic testing detected the JAK2 V617F mutation, and the patient was finally diagnosed with CMML. After treatment with the VA regimen (azacitidine + venetoclax), the patient’s condition remained stable. Conclusion: This case confirms that donor cells can undergo malignant transformation after allogeneic hematopoietic stem cell transplantation, leading to donor cell-derived chronic myelomonocytic leukemia. Its occurrence may be related to treatment-associated clonal evolution, donor-derived occult clonal hematopoiesis, or imbalance in immune surveillance. When long-term survivors after transplantation present with abnormal blood cells, comprehensive cytogenetic and molecular testing should be performed to distinguish between disease recurrence and secondary tumors. Intensified lifelong follow-up after transplantation is crucial for the early detection and management of such rare complications.