Medical School of Ningbo University, Ningbo, Zhejiang Province.
Department of Hematology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Medicine (Baltimore). 2021 Feb 5;100(5):e24385. doi: 10.1097/MD.0000000000024385.
The transformation of acute promyelocytic leukemia (APL) to acute mononuclear leukemia during treatment is a rare clinical phenomenon, and no CCAAT/enhancer-binding protein alpha (CEBPA) double mutations have been reported.
A 42-year-old male was hospitalized for ecchymosis of the left lower limb for more than 1 month, gingival bleeding, and fatigue for 10 days, with aggravation of symptoms for 2 days.
A diagnosis of APL was based on bone marrow (BM) morphology, immunophenotyping, fusion gene analysis, and fluorescence in situ hybridization. At a 1-year follow-up of maintenance treatment, he developed thrombocytopenia and was diagnosed with acute myeloid leukemia (AML) with a CEBPA double mutation by BM morphology, immunotyping, chromosomal analysis, polymerase chain reaction, and next generation sequencing.
Complete remission of APL was achieved after all-trans retinoic acid and arsenic trioxide double induction therapy, followed by 2 cycles of mitoxantrone and cytarabine, and 1 cycle of idarubicin and cytarabine. Thereafter, sequential maintenance therapy of arsenic trioxide + all-trans retinoic acid + methotrexate was started. In the fourth cycle of maintenance therapy, APL was transformed into AML with a CEBPA double mutation. After 1 cycle of idarubicin and cytarabine, the patient achieved complete remission and received 3 cycles of idarubicin and cytarabine and three cycles of high-dose cytarabine as consolidation therapy.
At present, the patient is in continuous remission with minimal residual disease negative for both of APL and AML.
AML with a CEBPA double mutation after APL treatment is very rare, thus the prognosis of this event will require further observation.
在治疗过程中，急性早幼粒细胞白血病（APL）向急性单核细胞白血病的转化是一种罕见的临床现象，尚未报道 CCAAT/增强子结合蛋白α（CEBPA）双突变。
一名 42 岁男性因左下肢瘀斑超过 1 个月、牙龈出血和疲劳 10 天住院，症状加重 2 天。
根据骨髓（BM）形态、免疫表型、融合基因分析和荧光原位杂交诊断为 APL。在维持治疗 1 年随访时，他出现血小板减少，并通过 BM 形态、免疫分型、染色体分析、聚合酶链反应和下一代测序诊断为 CEBPA 双突变的急性髓系白血病（AML）。
全反式维甲酸和三氧化二砷双重诱导治疗后 APL 达到完全缓解，随后进行 2 个周期米托蒽醌和阿糖胞苷、1 个周期伊达比星和阿糖胞苷。此后，开始序贯维持治疗砷剂+全反式维甲酸+甲氨蝶呤。在第 4 个维持治疗周期中，APL 转化为 CEBPA 双突变的 AML。伊达比星和阿糖胞苷 1 个周期后，患者达到完全缓解，接受 3 个周期伊达比星和阿糖胞苷和 3 个周期高剂量阿糖胞苷作为巩固治疗。
目前，患者持续缓解，APL 和 AML 的微小残留病均为阴性。
APL 治疗后 CEBPA 双突变的 AML 非常罕见，因此该事件的预后需要进一步观察。
