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

摘要

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. Highlights ? Constitutional 47,XXY is associated with increased risk for certain malignancies. ? There is no established association between 47,XXY (Klinefelter syndrome) and AML. ? We here report a case of AML in a patient with constitutional 47,XXY. ? A literature survey suggests that constitutional 47,XXY and AML occur uncommonly. ? Literature review suggests 47,XXY and AML are more often seen in younger patients.