Hyperdiploidy in AML: A Case Report and Review of the Literature

Acute myeloid leukemia (AML) is a heterogeneous disease, indicated by its many conceivable cytogenetic mutations. Hyperdiploidy is a rare abnormality in AML, more prevalent in children than adults, with few other distinguishing associations. Chromosome totals above 49 in AML are very rare (2%). AML with hyperdiploidy can first be categorized as low or high hyperdiploidy (HH) based on modal chromosome number. High hyperdiploidy is then subcategorized into adverse, structural, or numerical HH. Across all three subtypes of HH, gains of chromosomes 8, 13, and 21 are the most frequent. Although the general survival outcomes of HH AML have remained inconsistent across several different studies, prognosis often relies on the modal chromosome number of the patient, with higher numbers having significantly poorer overall survival rates (OS). Here, we present an 80-year-old male patient with AML showing an abnormal karyotype presenting 78 to 81 chromosomes.