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Origins and molecular biology of testicular germ cell tumors

机译:睾丸生殖细胞肿瘤的起源和分子生物学

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Testicular germ cell tumors can be divided into three groups (infantile/prepubertal, adolescent/young adult and spermatocytic seminoma), each with its own constellation of clinical histology, molecular and clinical features. They originate from germ cells at different stages of development. The most common testicular cancers arise in postpubertal men and are characterized genetically by having one or more copies of an isochromosome of the short arm of chromosome 12 [i(12p)] or other forms of 12p amplification and by aneuploidy. The consistent gain of genetic material from chromosome 12 seen in these tumors suggests that it has a crucial role in their development. Intratubular germ cell neoplasia, unclassified type (IGCNU) is the precursor to these invasive tumors. Several factors have been associated with their pathogenesis, including cryptorchidism, elevated estrogens in utero and gonadal dysgenesis. Tumors arising in prepubertal gonads are either teratomas or yolk sac tumors, tend to be diploid and are not associated with i(12p) or with IGCNU. Spermatocytic seminoma (SS) arises in older patients. These benign tumors may be either diploid or aneuploid and have losses of chromosome 9 rather than i(12p). Intratubular SS is commonly encountered but IGCNU is not. The pathogenesis of prepubertal GCT and SS is poorly understood.
机译:睾丸生殖细胞肿瘤可分为三组(婴儿/青春期前,青少年/年轻人和精细胞精原细胞瘤),每组都有自己的临床组织学,分子和临床特征。它们起源于处于不同发育阶段的生殖细胞。最常见的睾丸癌发生在青春期后的男性中,其遗传学特征是具有一个或多个拷贝的12号染色体[i(12p)]短臂同工染色体或其他形式的12p扩增以及非整倍性。从这些肿瘤中看到的12号染色体上遗传物质的持续增加表明,它在它们的发育中具有至关重要的作用。肾小管内生殖细胞肿瘤(未分类)(IGCNU)是这些浸润性肿瘤的先兆。与它们的发病机理相关的因素有很多,包括隐睾症,子宫内雌激素水平升高和性腺发育不全。青春期前性腺中产生的肿瘤是畸胎瘤或卵黄囊肿瘤,往往是二倍体,与i(12p)或IGCNU无关。精细胞精原细胞瘤(SS)发生在老年患者中。这些良性肿瘤可能是二倍体或非整倍体,丢失了9号染色体,而不是i(12p)。管内SS是常见的,但IGCNU不是。青春期前GCT和SS的发病机理知之甚少。

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