Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case report

• Published in: Annals of hematology Vol. 81; no. 4; pp. 215 - 218
• Main Authors: KUMAR, S, MENKE, D. M, DEWALD, G. W, COLON-OTERO, G
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01.04.2002; Springer Nature B.V
• Subjects: Biological and medical sciences; Chromosome aberrations; Cytogenetic Analysis; Hematologic and hematopoietic diseases; Humans; Klinefelter Syndrome - complications; Klinefelter Syndrome - diagnosis; Klinefelter Syndrome - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical genetics; Medical sciences; Middle Aged; Primary Myelofibrosis - diagnosis; Primary Myelofibrosis - etiology; Primary Myelofibrosis - genetics; Chromosomal aberration; Endocrinopathy; Human; Klinefelter syndrome; Acute; Aneuploidy; Male; Sexual differentiation disorder; Malignant hemopathy; Supernumerary X chromosome; Hypogonadism; Case study; Metaplasia; Concomitant disease; Malformation; Male genital diseases; Acute myelocytic leukemia
• ISSN: 0939-5555; 1432-0584
• DOI: 10.1007/s00277-002-0430-2

Klinefelter syndrome is the most commonly diagnosed sex chromosome disorder among males. It is usually associated with 47 chromosomes, including two Xs and one Y. The formal cytogenetic designation for Klinefelter syndrome is 47, XXY; the extra sex chromosome is due to meiotic chromosomal nondisjunction. Increased risk of various malignant diseases has been recognized among patients with different congenital chromosomal abnormalities. Since the early 1960s, numerous reports have appeared of an increased risk of malignant neoplasms among patients with Klinefelter syndrome. Evidence suggests a correlation with increased incidences of germ cell tumors and breast cancers. Whether these patients are at an increased risk of hematologic malignant disease, especially acute leukemia, is still uncertain. This report describes a patient with agnogenic myeloid metaplasia and Klinefelter syndrome, an association not previously reported.