Characterization of atypical acute promyelocytic leukaemia: Three cases report and literature review

Abstract

Rationale: The vast majority of acute promyelocytic leukemia (APL) is characterized with a specific chromosomal translocation t (15, 17) (q22, q21), which fuses PML-RARa leading to a good response to all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). However, there are few cases of atypical APL, including PLZF-RARa, F1P1L1-RARa, STAT5b-RARa, et al. Neither PLZF-RARa nor STAT5b-RARa are sensitive to ATRA and ATO, and the prognosis is poor. Patient concerns: Here we have 3 cases (PLZF-RARa, n=2; STAT5b-RARa, n=1). Case A, A 53-year-old Chinese female had suffered ecchymosis in both legs for 3 days. Case B, A 44 years old male suffered pain from lower limbs and hip. Case C, 52-year-old male patient presented with fever for 3 weeks invalid to antibiotics and gingival bleeding for 1 week. Diagnoses: With RT-PCR and karyotype, Case A is diagnosed with STAT5b-RARa-positive APL. Case BC are diagnosed with PLZF-RARa-positive APL. Interventions: In case A, ATO, and ATRA were used for induction treatment. In Case B, ATO, and chemotherapy with DA were given in the first induction treatment. In Case C, ATRA, and ATO were used immediately, subsequently, chemotherapy was added with DA, ATRA, and CAG combination treatment, and medium-dose cytarabine with daunorubicin were given regularly. Outcomes: In Case A, the patient refused the following treatment and discharged on day 25. In Case B, the patient got the disseminated intravascular coagulation (DIC).In Case C, the patient has survived for 7 months and remains CR. Lessons: Both STAT5b-RARa-positive APL and PLZF-RARa-positive APL appear to be resistant to both ATRA and ATO, so combined chemotherapy and allo-HSCT should be considered. Since the prognosis and long-term outcome are poor, more clinical trials, and researches should be taken.