Differential diagnosis, investigations and treatment
Appendectomy and abdominal lavage were performed 2 days after admission. The initial chemotherapy was delayed for 7 days to allow for adequate wound healing postoperatively. The patient received induction chemotherapy for AML (aclarubicin 14 mg/m2 for 4 days, cytarabine 20 mg/m2 for 14 days and granulocyte colony-stimulating factor [CAG regimen]). Haematological complete remission was achieved after four cycles of chemotherapy. However, 1% of leukaemia cells remained in the bone marrow, which was confirmed via a flow cytometry analysis. Azacitidine (75 mg/m2 for 7 days) and venetoclax (50 mg/body weight daily) regimen was provided as a maintenance therapy. According to the National Comprehensive Cancer Network guidelines, this patient had a poor prognosis. Haematopoietic stem cell transplantation was planned. After two courses of azacitidine–venetoclax regimen, the patient received umbilical cord blood transplantation.
Somatic TP53 mutations of the AML cells were examined to predict prognosis. Heterozygous c.566C>T mutation was found in AML cells (Figure 2A). Because germlineTP53 mutation was suspected, the haematologist referred the patient to the department of clinical genetics in our hospital. Analysis of the peripheral blood revealed a germline heterozygotic c.566C>T mutation in the AML specimen (Figure 2B). The analysis was performed after the achievement of complete remission and before umbilical cord transplantation.