Maturation delay of germ cells in fetuses with trisomy 21 results in increased risk for the development of testicular germ cell tumors

被引:37
作者
Cools, M
Honecker, F
Stoop, H
Veltman, JD
de Krijger, RR
Steyerberg, E
Wolffenbuttel, KP
Bokemeyer, C
Lau, YFC
Drop, SLS
Looijenga, LHJ [1 ]
机构
[1] Erasmus Univ, Med Ctr, Dept Pathol, Josephine Nefkens Inst, NL-3000 DR Rotterdam, Netherlands
[2] Univ Hamburg, Med Ctr, Dept Hematol Oncol, D-20246 Hamburg, Germany
[3] Erasmus Univ, Med Ctr, Ctr Clin Decis Sci, Dept Publ Hlth, NL-3000 DR Rotterdam, Netherlands
[4] Erasmus Univ, Med Ctr, Sophia Childrens Hosp, Dept Pediat Urol, NL-3000 DR Rotterdam, Netherlands
[5] Univ Calif San Francisco, San Francisco, CA 94121 USA
[6] Vet Adm Med Ctr, Dept Med, Div Cell & Dev Genet, San Francisco, CA 94121 USA
[7] Erasmus Univ, Med Ctr, Sophia Childrens Hosp, Dept Pediat Endocrinol, NL-3000 DR Rotterdam, Netherlands
关键词
trisomy; 21; gonadal development; germ cell neoplasia; OCT3/4; TSPY;
D O I
10.1016/j.humpath.2005.09.021
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Trisomy 21 is associated with an increased risk for the occurrence of germ cell tumors in males. The development of these tumors is thought to be related to events in fetal life. A delay in the maturation of genii cells is one of the mechanisms that have been proposed for the development of these tumors in high-risk groups such as intersex patients. To investigate whether a delay in germ cell development also occurs in trisomy 21, we examined the gonads of 30 fetuses, neonates, and infants with trisomy 21 (19 males and 11 females) for the expression of several immunohistochemical germ cell markers throughout pregnancy and compared them with a series of 46 age-matched controls. The results of our study reveal a significant delay in genii cell development in fetuses with trisomy 21, especially in males. Prolonged expression of octamer binding transcription factor 3/4, in combination with an increased expression of testis-specific protein, Y-encoded, might have pathogenetic relevance for the development of testicular germ cell tumors in this population. (c) 2006 Elsevier Inc. All rights reserved.
引用
收藏
页码:101 / 111
页数:11
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