Abstract
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
