• Ye Sun, Chong Wang, Yongcheng Sun, Jiaping Wang, Chunmeng Rong, An Wu, Guifang Ouyang, and Lixia Sheng.
• Medical School of Ningbo University, Ningbo, Zhejiang Province.
• Medicine (Baltimore). 2021 Feb 5; 100 (5): e24385.

IntroductionThe 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.Patient ConcernsA 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.DiagnosisA 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.InterventionsComplete 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.OutcomesAt present, the patient is in continuous remission with minimal residual disease negative for both of APL and AML.ConclusionAML with a CEBPA double mutation after APL treatment is very rare, thus the prognosis of this event will require further observation.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

21 keywords...

hide…