Acute myeloid leukemia, M1 with trisomy 1, 8, and 21: a case report of a rare complex karyotype

Abstract

Introduction Acute myeloid leukemia (AML) is a heterogenous disorder that results from a block in the differentiation of hematopoietic progenitor cells along with uncontrolled proliferation. Cytogenetics represents the most valuable predictor for a poor outcome in patients with AML, and the cytogenetic profile of AML at diagnosis consistently remains a highly influential prognostic factor. Of these cytogenetic aberrations, patients with complex karyotype anomalies show very low complete remission rates and short leukemia-free and overall survival. Case presentation We report a case of AML in a 50-year-old female patient who presented with morphologic and immunophenotypic features of AML-M1. The patient's karyotyping and fluorescence in-situ hybridization of cultured bone marrow cells revealed a unique complex karyotype: 49, XX, +1, +8, +21. The patient's condition deteriorated rapidly and she died shortly after induction from fatal infectious complications. Conclusion Reports of trisomy 1 in AML are rare, and, to the best of our knowledge, the present case is the only one reported with the occurrence of trisomy 1 in addition to trisomy 8 and 2. Treatment outcomes of complex karyotype AML patients receiving chemotherapy are very poor; the yet unreported complex karyotype observed in this case seems to be correlated with an adverse prognosis. Single case reports as well as large scale studies are necessary to provide further insights on karyotypic changes taking place in human malignancies.