Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.
Keywords: acute myeloid leukemia; inversion(16); trisomy 9.
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