Al-Mashdali Abdulrahman F, Ibrahim Feryal, Kohla Samah, Ganwo Ibrahim, Akiki Susanna, Abdulgayoom Mohammed, Yassin Mohamed A
Department of Hematology and Bone Marrow Transplant, National Center for Cancer Care and Research (NCCCR), Hamad Medical Corporation, Doha, Qatar.
Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.
J Hematop. 2025 Aug 2;18(1):38. doi: 10.1007/s12308-025-00653-7.
Myelomastocytic leukemia (MML) presenting as a blast phase manifestation of Chronic Myeloid Leukemia (CML) is exceptionally rare, with limited documented cases in the literature. Understanding its distinct clinicopathologic features and treatment outcomes is crucial for optimal patient management. A 45-year-old male with a history of CML since 2016, previously treated with imatinib and dasatinib, presented after treatment interruption with leukocytosis (WBC 27.3 × 103/μL) and 58% circulating blasts showing metachromatic granulation. Bone marrow examination revealed 30% blast cells with strong CD117 and tryptase positivity. Flow cytometry identified two distinct populations: 7% myeloblasts and 27% immature myeloid cells with bright CD117 expression. BCR-ABL1 rearrangement was confirmed with a ratio of 112% (IS). The patient received combination therapy with standard "3 + 7" induction chemotherapy and dasatinib. Despite complications of febrile neutropenia, the post-induction bone marrow examination demonstrated achievement of complete morphologic remission. This case highlights the successful initial treatment of myelomastocytic transformation in CML blast phase using intensive combination therapy. The detailed morphologic, immunophenotypic and molecular characterization provides valuable insights into this rare entity, while the favorable initial response supports an aggressive treatment approach. Long-term follow-up and further studies are needed to establish optimal treatment strategies.
以慢性髓性白血病（CML）急变期表现的髓肥大细胞白血病（MML）极为罕见，文献中记载的病例有限。了解其独特的临床病理特征和治疗结果对于优化患者管理至关重要。一名45岁男性，自2016年起患有CML，此前接受过伊马替尼和达沙替尼治疗，在治疗中断后出现白细胞增多（白细胞计数27.3×10³/μL），循环原始细胞占58%，可见异染性颗粒。骨髓检查显示30%的原始细胞，CD117和类胰蛋白酶呈强阳性。流式细胞术鉴定出两个不同的群体：7%的原始粒细胞和27%的未成熟髓样细胞，CD117表达明亮。BCR-ABL1重排得到证实，比例为112%（国际量表）。患者接受了标准的“3+7”诱导化疗和达沙替尼联合治疗。尽管出现了发热性中性粒细胞减少症的并发症，但诱导治疗后的骨髓检查显示达到了完全形态学缓解。该病例突出了使用强化联合治疗成功初始治疗CML急变期的髓肥大细胞转化。详细的形态学、免疫表型和分子特征为这一罕见实体提供了有价值的见解，并支持积极的治疗方法。需要长期随访和进一步研究以确定最佳治疗策略。
