Acute Myelocytic Leukemia Associated with Klinefelter syndrome; Literature Review

Abstract

A 40 year old male was admitted to our hospital in August 1986, because of high fever and gingival swelling following the extraction of his teeth. On physical examination, anemia, purpura throughout his body and gingival ulcer were noted. He showed small testes and undeveloped penis. Hematological examination revealed acute myelocytic leukemia (M1) Chromosome study in peripheral blood cells showed 47, XXY, (7/20 cell) and 47, XXY, t(1;14)(p13;q32) (13/20 cell), whereas 47, XXY, (18/18 cell) in bone marrow cells. In spite of cytostatic treatment (BHAC-DMP, BHAC-AMP), complete remission was not achieved. He died after CNS leukemia finally of lung bleeding.
Klinefelter syndrome is a disorder characterized by a 47, XXY karyotype that occurs in approximately 2/1,000 males. Until now thirteen cases with the combination of Klinefelter syndrome and acute leukemia are recorded in the literature. We here present these cases and discuss possible connection between the constitutional chromosome abnormality and acute leukemia.