Blood consult Blood consult: monosomal karyotype acute myeloid leukemia

A 24-year-old woman presented to her primary care physician for persistent bilateral otitis media and frequent night sweats. Laboratory evaluation revealed a white blood cell count of 26 000/mL with 84% blasts on differential, hemoglobin 6.8 g/dL, and platelet 90 000/mL. Her total serum lactate dehydrogenase level was 888 U/L. She underwent a diagnostic bone marrow aspirate and biopsy, which demonstrated hypercellularity with flow cytometry demonstrating 87% blasts expressing CD4, CD11c, HLA-DR, CD33, CD15, CD64, dim CD117, dim CD13, and partial CD56, but lacking MPO and CD34. Cytogenetic analysis revealed the following karyotype: 45,XY,del(5)(q11.2q35), 8,der,(12)der(16; 18)(p10;q10), 7, 17[17]/46,XY[3]. Molecular studies were negative for a FLT3-ITD or mutations in NPM1, CEBPA, or FLT3-TKD. These findings were consistent with a diagnosis of acute myeloid leukemia (AML) with monosomal karyotype (MK AML). She was transferred to our medical center for further management. Review of her medical history demonstrated good health, no prior medications, and no known drug allergies. She has no history of smoking or alcohol. Family history was significant for her maternal grandmother having pancreatic cancer. On physical examination, she was noted to have multiple cervical lymph nodes all less than 0.5 cm with the remaining otherwise completely normal. Her bone marrow specimens were reviewed, and a management decision was made. Following institutional guidelines, she was given induction chemotherapy consisting of idarubicin 12 mg/m2 by intravenous injection on days 1 through 3, and cytarabine 3000 mg/m2 by intravenous infusion over 3 hours every 12 hours for 4 days. Her persistent otitis media had been caused by adenoid hypertrophy with subsequent eustachian tube obstruction, which improved after starting chemotherapy. Her course was complicated by neutropenic fever, and workup revealed fungal pulmonary nodules, which were treated with antifungal therapy, and anthracycline-induced pericarditis, which responded to a 14-day course of prednisone. Fourteen days after the beginning of induction chemotherapy, bone marrow aspirate and biopsy were performed, which revealed hypocellularity and 0% residual blasts. Subsequent bone marrow aspirate and biopsy after peripheral blood count recovery demonstrated hypercellularity with less than 1% blasts and no morphologic or immunophenotypic evidence of disease, and cytogenetics showed normal female karyotype, 46,XX, consistent with a first complete cytogenetic remission.1 HLA typing showed that she and her brother are a 10-of-10 match. She now presents for discussion of treatment strategy after induction therapy. Discussion