Ferlin A, Speltra E, Garolla A, Selice R, Zuccarello D, Foresta C
Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy.
Mol Hum Reprod. 2007 Sep;13(9):615-9. doi: 10.1093/molehr/gam052. Epub 2007 Aug 6.
Although in the past decades much progress in testicular cancer (TC) management has been made, little is known about the possible genetic causes and molecular mechanisms involved in its aetiopathogenesis. Some studies on possible contribution of the Y chromosome in TC development have been previously published, but data are not conclusive. In particular, ethnic influence and spermatogenic activity of patients with TC have not been adequately considered in previous studies, although they may represent important confounding factors. The objective of this study is to analyse the contribution of the Y chromosome in testicular germ cell cancer subjects who are well defined at the microgeographical, clinical and seminological level. We analysed Y chromosome classic azoospermia factor (AZF) deletions, partial AZFc deletions and Y haplogroups in 118 sporadic cases of testicular germ cell cancer and 93 microgeographically matched controls. Y chromosome screening failed to identify Y chromosome microdeletions in either cases or controls. Y chromosome haplogroup distribution and frequencies did not differ between cases and controls. Furthermore, no difference was observed when comparing patients with seminoma and non-seminoma, nor when comparing patients with TC with normozoospermia and azoo-oligozoospermia. Our findings combined with data reported so far suggest that classic AZF deletions and partial AZFc deletions are not a frequent cause or risk factor for TC and that different Y haplogroup distribution does not contribute to susceptibility to this tumour.
尽管在过去几十年里，睾丸癌（TC）的治疗取得了很大进展，但对于其发病机制中可能的遗传原因和分子机制却知之甚少。此前已经发表了一些关于Y染色体在TC发生中可能作用的研究，但数据并不确凿。特别是，尽管种族影响和TC患者的生精活性可能是重要的混杂因素，但在以往的研究中并未得到充分考虑。本研究的目的是分析Y染色体在微观地理、临床和精液学水平上定义明确的睾丸生殖细胞癌患者中的作用。我们分析了118例散发性睾丸生殖细胞癌病例和93例微观地理匹配的对照者的Y染色体经典无精子症因子（AZF）缺失、部分AZFc缺失和Y单倍群。Y染色体筛查在病例组和对照组中均未发现Y染色体微缺失。病例组和对照组之间的Y染色体单倍群分布和频率没有差异。此外，比较精原细胞瘤和非精原细胞瘤患者，以及比较TC患者与正常精子症和少精子症患者时，均未观察到差异。我们的研究结果与迄今报道的数据相结合表明，经典的AZF缺失和部分AZFc缺失并非TC的常见病因或危险因素，不同的Y单倍群分布也不会增加患这种肿瘤的易感性。
