Molecular Human Reproduction, Vol. 9, No. 9, 517-521,
September 2003
© 2003 European Society of Human Reproduction and Embryology
Article |
No AZF deletion in 160 patients with testicular germ cell neoplasia
Submitted on April 8, 2003; accepted on May 15, 2003
1 University Department of Growth and Reproduction, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark, 2 Section of Molecular Genetics and Infertility, Department of Gynaecological Endocrinology and Reproductive Medicine, University of Heidelberg, D-69115 Heidelberg, Germany and 3 Department of Oncology, Rigshospitalet, DK-2100 Copenhagen, Denmark
4 To whom correspondence should be addressed. e-mail: erm{at}rh.dk
Testicular germ cell cancer is aetiologically linked to genital malformations and male infertility and is most probably caused by a disruption of embryonic programming and gonadal development during fetal life. In some cases, germ cell neoplasia is associated with a relative reduction of Y chromosomal material (e.g. 45,X/46,XY) or other abnormalities of the Y chromosome. The euchromatic long arm of the human Y chromosome (Yq11) contains three azoospermia factors (AZFa, AZFb, AZFc) functionally important in human spermatogenesis. Microdeletions encompassing one of these three AZF loci result in the deletion of multiple genes normally expressed in testis tissue and are associated with spermatogenic failure. The aim of our study was to investigate whether AZF microdeletions, in addition to causing infertility, predispose also to germ cell neoplasia, since subjects with poor spermatogenesis have an increased risk of testicular cancer. We screened for putative deletions of AZF loci on the Y chromosome in DNA isolated from white blood cells of 160 Danish patients with testicular germ cell neoplasia. Interestingly, although AZF microdeletions are found frequently in patients with idiopathic infertility, in all cases studied of testicular germ cell cancer the Yq region was found to be intact. We conclude that the molecular aetiology of testicular germ cell neoplasia of the young adult type most likely does not involve the same pathways as male infertility caused by AZF deletions. Malignant transformation of germ cells is thus caused by the dysfunction of some other genes that still need to be identified.
Key words: AZF/male infertility/testicular germ cell neoplasia/testicular dysgenesis syndrome/Yq microdeletions
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  C. Mau Kai, A. Juul, K. McElreavey, A.M. Ottesen, I.D. Garn, K.M. Main, A. Loft, N. Jorgensen, N.E. Skakkebaek, A. N. Andersen, et al. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number Hum. Reprod., July 1, 2008; 23(7): 1669 - 1678. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Ferlin, E. Speltra, A. Garolla, R. Selice, D. Zuccarello, and C. Foresta Y chromosome haplogroups and susceptibility to testicular cancer Mol. Hum. Reprod., September 1, 2007; 13(9): 615 - 619. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Giachini, F. Nuti, E. Marinari, G. Forti, and C. Krausz Partial AZFc deletions in infertile men with cryptorchidism Hum. Reprod., September 1, 2007; 22(9): 2398 - 2403. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Rajpert-De Meyts Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects Hum. Reprod. Update, May 1, 2006; 12(3): 303 - 323. [Abstract] [Full Text] [PDF]
|
|