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Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis

A 2-year-old boy presented with fever and fatigue. Upon physical examination, he was found to have petechiae on the lower extremities, cervical lymphadenopathy, hepatomegaly but no splenomegaly. Laboratory tests revealed leukocytosis (white blood cell count, 83.33 × 109/L), anaemia (haemoglobin 10.3 g/dL, mean corpuscular volume 73.1 fL, mean corpuscular haemoglobin 23.8 pg) and thrombocytopenia (platelet count 38 × 109/L). A peripheral blood smear (panel A-B, Wright-Giemsa stain, original magnification × 1000) and bone marrow aspirate (panel C, Wright-Giemsa stain, original magnification × 1000) revealed a large number of lymphoblast and elliptocytes. Flow cytometry analysis revealed CD38+HLA-DR+CD123 +CD19+CD10+cCD79a+CD9+TDT+CD34+ blast population consistent with B-cell acute lymphoblastic leukaemia (B-ALL). Conventional cytogenetic study revealed a normal karyotype. Genetic molecular testing revealed FLT3 mutation with a variant allele frequency of 27.8%. Then, the child was started with induction chemotherapy per CCLGALL 2015 as intermediate risk B-ALL. On day 8, he demonstrated a good response to prednisone. At the end of induction, his bone marrow sample showed no detectable abnormal B lymphoblasts by flow cytometry. Unfortunately, the child had a relapse one year later. Meanwhile, we found a large number of elliptocytes persisted in his blood and bone marrow during chemotherapy. Based on this observation, we reviewed his parents' peripheral blood films and found a plenty of elliptocytes in his father's blood (panel D, Wright-Giemsa