Hematologic malignancies and Klinefelter syndrome. a chance association?

Cancer Genet Cytogenet. 2002 Nov;139(1):9-13. doi: 10.1016/s0165-4608(02)00626-x.


Klinefelter syndrome was first described in 1942 as an endocrine disorder characterized by gynecomastia, hypogonadism, small testes, and elevated levels of follicle-stimulating hormone. An extra X chromosome (i.e., 47,XXY) was subsequently demonstrated in these patients and an increased incidence of leukemia and lymphoma has been described. We report a retrospective study of a series of unselected patients with Klinefelter syndrome diagnosed by cytogenetic studies and the occurrence of hematologic malignancies. The literature is also reviewed.

Publication types

  • Review

MeSH terms

  • Adult
  • Hematologic Neoplasms / genetics*
  • Humans
  • Incidence
  • Karyotyping
  • Klinefelter Syndrome / genetics*
  • Leukemia / epidemiology
  • Leukemia / genetics*
  • Lymphoma / epidemiology
  • Lymphoma / genetics*
  • Male
  • Retrospective Studies