
Transformation from acute promyelocytic leukemia to acute myeloid leukemia with a CEBPA double mutation
Author(s) -
Yongbing Sun,
Chong Wang,
Yongcheng Sun,
Jiaping Wang,
Chunmeng Rong,
An Wu,
Guifang Ouyang,
Lixia Sheng
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000024385
Subject(s) - medicine , idarubicin , cebpa , acute promyelocytic leukemia , cytarabine , myeloid leukemia , mitoxantrone , leukemia , cancer research , gastroenterology , oncology , chemotherapy , mutation , retinoic acid , biology , biochemistry , gene
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. Patient concerns: 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. Diagnosis: 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. Interventions: 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. Outcomes: At present, the patient is in continuous remission with minimal residual disease negative for both of APL and AML. Conclusion: AML with a CEBPA double mutation after APL treatment is very rare, thus the prognosis of this event will require further observation.