Tumor Risk in Disorders of Sex Development
Tumor Risk in Disorders of Sex Development
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DOI：
10.1159/000314536
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发表时间：
2010-01-01
影响因子：
2.3
通讯作者：
Looijenga, L. H.
中科院分区：
文献类型：
--
作者：
Pleskacova, J.;Hersmus, R.;Looijenga, L. H.
某些性发育障碍(DSD)患者，其核型中携带Y染色体材料，患II型生殖细胞肿瘤(GCT)的风险增加，GCT源于早期胎儿生殖细胞。DSD性腺通常含有表达早期胎儿生殖细胞标志的未成熟生殖细胞。其中一些(如Oct3/4和NANOG)似乎与GCT的发生发展有关，为细胞提供了多能性、增殖和抑制凋亡的能力。此外，Y染色体上的性母细胞瘤基因的主要候选基因TSPY(睾丸特异蛋白Y编码)在DSD患者的生殖细胞中高表达，可能与其存活和增殖有关。如今，免疫组织化学方法的使用在识别DSD高危性腺方面具有高度相关性。全球技术转让发展的风险各不相同。在部分雄激素不敏感的患者中，GCT的患病率为15%，而在性腺发育不全患者中，GCT的患病率可能达到30%以上。完全雄激素不敏感的患者和卵巢睾丸DSD患者发生恶性肿瘤的比例分别为0.8%和2.6%。然而，由于各种原因，这些数据可能是有偏差的。为了更好地估计个别DSD组的风险，需要对大的患者系列进行进一步的研究。版权所有(C)2010年S.Karger AG，巴塞尔
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 (testis-specific protein Y-encoded), the main candidate for the so-called gonadoblastoma locus on Y chromosome, is over-expressed 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 malignancies 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. Copyright (c) 2010 S. Karger AG, Basel