Cools Martine, Honecker Friedemann, Stoop Hans, Veltman Joris D, de Krijger Ronald R, Steyerberg Ewout, Wolffenbuttel Katja P, Bokemeyer Carsten, Lau Yun-Fai Chris, Drop Stenvert L S, Looijenga Leendert H J
Department of Pathology, Josephine Nefkens Institute, Erasmus MC-University Medical Center, Daniel den Hoed, 3000 DR Rotterdam, The Netherlands.
Hum Pathol. 2006 Jan;37(1):101-11. doi: 10.1016/j.humpath.2005.09.021.
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 germ 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 germ 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.
21三体综合征与男性生殖细胞肿瘤发生风险增加有关。这些肿瘤的发生被认为与胎儿期的事件有关。生殖细胞成熟延迟是为诸如两性畸形患者等高风险群体中这些肿瘤的发生所提出的机制之一。为了研究21三体综合征中是否也存在生殖细胞发育延迟，我们检查了30例患有21三体综合征的胎儿、新生儿和婴儿（19例男性和11例女性）的性腺，以观察整个孕期几种免疫组化生殖细胞标志物的表达情况，并将其与46例年龄匹配的对照系列进行比较。我们的研究结果显示，21三体综合征胎儿的生殖细胞发育存在显著延迟，尤其是男性。八聚体结合转录因子3/4的持续表达，与Y染色体编码的睾丸特异性蛋白表达增加相结合，可能与该人群睾丸生殖细胞肿瘤的发生具有致病相关性。
