AN EXCESS OF TESTICULAR GERM-CELL TUMORS IN DOWNS-SYNDROME - 3 CASE-REPORTS AND A REVIEW OF THE LITERATURE

BACKGROUND. The incidence of specific solid tumors in Down's syndrome (DS) is not well established. Testicular germ cell tumors (TGCT) might be increased in this population. METHODS. The presence of TGCT among male subjects from the French department of Correze was recorded and l iterature on the subject reviewed. RESULTS. A total of 120 living chil dren and adults with DS and 17 pregnancies (12 births and 5 therapeuti c abortions) were examined over an 8-year period (1987-1994). Three TG CT were diagnosed. A seminoma and an embryonal carcinoma were observed in two young adults and an intratubular germ cell neoplasm in a 22-we ek-old fetus. Because testicular tumors occur at an incidence rate of 4 cases per 100,000 person-years in the general population, these obse rvations suggest a clearly increased risk of developing TGCT in the DS population. In addition, a review of the literature also shows an exc ess of TGCT in this population. Cryptorchidism alone, which is prevale nt in individuals with DS, cannot explain this significantly increased incidence of TCGT. The authors hypothesize that an excess of luteiniz ing hormone and follicle-stimulating hormone gonadotropins and overexp ression of the Ets-2 gene through gene dosage effect could predispose patients with DS to the development of TGCT. CONCLUSIONS. Surveillance of the gonads of male patients with DS is recommended. A better under standing of the factors involved could also help to identify risk fact ors in the general population. (C) 1997 American Cancer Society.