Tumor Risk in Disorders of Sex Development

Pleskacova, J and Hersmus, R and Oosterhuis, JW and Setyawati, BA and Faradz, SM and Cools, M and Wolffenbuttel, KP and Lebla , J and Drop , SL and Looijeng, LH (2010) Tumor Risk in Disorders of Sex Development. Sex Dev (Published online: June 17, 2010). ISSN DOI: 10.1159/000314536

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Abstract

Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in GCT development providing cells with the ability of pluripotency,proliferation and apoptosis suppression. Also TSPY (testisspecific protein Y-encoded), the main candidate for the socalled gonadoblastoma locus on Y chromosome, is overexpressed in germ cells of DSD patients and possibly contributes to their survival and proliferation. Nowadays, the use of immunohistochemical methods is highly relevant in identifying DSD gonads at risk. The risk for GCT development varies. While the prevalence of GCT is 15% in patients with partial androgen insensitivity, it may reach more than 30% in patients with gonadal dysgenesis. Patients with complete androgen insensitivity and ovotesticular DSD develop ma lignancies in 0.8% and 2.6% of cases, respectively. However,these data may be biased for various reasons. To better estimate the risk in individual groups of DSD, further investigations on large patient series are needed.

Item Type:Article
Subjects:R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine

Postgraduate Program > Master Program in Biomedical Science
ID Code:14908
Deposited By:Mr. Magister Biomedik Admin
Deposited On:19 Jun 2010 07:21
Last Modified:19 Jun 2010 07:25

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