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[睾丸生殖细胞肿瘤的遗传学]

[Genetics of testicular germ cell tumors].

作者信息

Verdorfer I

机构信息

Department für Medizinische Genetik, Molekulare und Klinische Pharmakologie, Sektion für Humangenetik, Medizinische Universität Innsbruck, Peter-Mayr-Str. 1, 6020, Innsbruck, Österreich,

出版信息

Pathologe. 2014 May;35(3):218-23. doi: 10.1007/s00292-014-1897-z.

Abstract

Testicular cancer is by far the most common neoplasm among young males between the ages of 20 and 40 years and with an increasing incidence rate worldwide. Congenital malformations of the male genitals, such as cryptorchidism or inguinal hernia are established risk factors. Men with a family history of testicular cancer are also associated with an increased risk of the disease. In the testes more than 90 % of tumors develop from germ cells (progenitor cells) and represent a histologically heterogeneous group. Germ cell tumors in extragonadal localizations are rare. Isochromosome i(12p), the typical marker chromosome in testicular germ cell tumors, occurs as an early event in tumorigenesis. Spermatocytic seminoma is a rare variant of germ cell tumors and according to the current classification is a distinct entity with different morphological, clinical and also cytogenetical features compared with other germ cell tumors.

摘要

睾丸癌是20至40岁年轻男性中迄今为止最常见的肿瘤,且在全球范围内发病率呈上升趋势。男性生殖器的先天性畸形,如隐睾症或腹股沟疝,是已确定的危险因素。有睾丸癌家族史的男性患该病的风险也会增加。在睾丸中,超过90%的肿瘤由生殖细胞(祖细胞)发展而来,并且在组织学上是一个异质性群体。性腺外部位的生殖细胞肿瘤很罕见。等臂染色体i(12p)是睾丸生殖细胞肿瘤的典型标记染色体,在肿瘤发生过程中是早期事件。精母细胞性精原细胞瘤是生殖细胞肿瘤的一种罕见变体,根据目前的分类,它是一个与其他生殖细胞肿瘤相比具有不同形态、临床和细胞遗传学特征的独特实体。

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