title: 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.
authors.affiliation: Tufts University School of Medicine, Boston, MA, United States.
authors.forename: Marla M
authors.initials: MM
authors.lastname: Jalbut
authors.affiliation: Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Aliyah R
authors.initials: AR
authors.lastname: Sohani
authors.affiliation: Brigham and Women׳s Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Paola
authors.initials: P
authors.lastname: Dal Cin
authors.affiliation: Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Robert P
authors.initials: RP
authors.lastname: Hasserjian
authors.affiliation: Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Jenna A
authors.initials: JA
authors.lastname: Moran
authors.affiliation: Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Brunner
authors.affiliation: Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
authors.forename: Amir T
authors.initials: AT
authors.lastname: Fathi
keywords: Acute myeloid leukemia; Constitutional chromosomal abnormality; Klinefelter syndrome