Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter's syndrome.
We report herein a patient with Klinefelter's syndrome associated with refractory anemia with excess of blasts in transformation, a subtype of myelodysplastic syndrome (MDS). The MDS developed with karyotypic abnormality involving t(4;7)(q21;q11), and was characteristic of marked thrombocytosis and marrow infiltration by many atypical megakaryocytes. The patient also had diabetes mellitus and a disturbed immune system. To our knowledge, this is the fifth reported case of MDS in patients with Klinefelter's syndrome in the literature.
Yamauchi
K
K
Department of Internal Medicine, Tokai University School of Medicine, Tokyo, Japan.
D000754:Anemia, Refractory, with Excess of Blasts / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002894:Chromosomes, Human, Pair 4; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D008875:Middle Aged; D013922:Thrombocytosis / Q000150:complications* / Q000235:genetics; D014178:Translocation, Genetic