Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype

Abstract

Klinefelter syndrome (KS), a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML) with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

Keywords

• Acute myeloid leukemia
• Klinefelter syndrome
• Constitutional chromosomal abnormality