Acute promyelocytic leukemia relapsing into acute myeloid leukemia-M2 with normal cytogenetics
A 32-year-old housewife presented with 1 month history of fever, bleeding per vaginum, and pancytopenia. Peripheral smear and bone marrow were suggestive of infiltration of 90-95% abnormal promyelocytes and blasts, which were strongly myeloperoxidase positive. Coagulation screen was normal. Flourescence in situ hybridization FISH for detection of translocation which fuses the promyelocytic leukemia gene (PML) on chromosome 15q22-q24 to the retinoic acid receptor alpha (RARA) gene on 17q21 PML/RARA translocation carried out by vysis probe/dual color dual fusion method identified PML/RARA translocation. After the first induction course, with ATRA (45 mg/m2/d per oral in 2 divided doses) with daunorubicin (45 mg/m2/d IV over days 1-3) the patient was in morphological complete remission (CR). This was followed by consolidation and maintenance which was completed by April 2009. The patient remained in CR until December 2010, when she presented with fever, weakness, and pancytopenia. Bone marrow examination was compatible with acute myeloid leukemia (AML) French-American-British M2; the karyotype was normal, PML/RARA was negative by both FISH and PCR methods which were repeated twice. The patient attained complete hematological remission after 7 + 3 induction cytarabine (100 mg/m2/d over days 1-7) and idarubicin (12 mg/m2/d over days 1-3) followed by first consolidation with high dose cytarabine. She did not have a full sibling Human leukocyte antigen HLA match. She was taken for autologous hematopoietic stem cell transplant (HSCT) using busulphan and cyclophosphamide conditioning. After a treatment free interval of 9 months, the patient again presented with fever, weakness and pancytopenia and diagnosed with second relapse (AML-M2). Patient was explained about the nature of the disease and the available treatment options and their resultant toxicity. She opted for supportive care and finally succumbed to her illness.