Molecular Genetics of Testicular Germ Cell Tumor

Part of the Cancer Genetics book series (CANGENETICS)


The term “germ cell tumor” encompasses both male and female tumors that arise from germ cells with subtypes differentiated based on chromosomal changes and imprinting status. While five subtypes of germ cell tumors are described (Oosterhuis and Looijenga 2005) only three arise in the male testis – pediatric germ cell tumors (generally yolk sac), adolescent and adult testicular germ cell tumors, and spermatocytic seminoma. Of those, the most frequent are testicular germ cell tumors (TGCT), which are the most common cancer in men aged 20–40 (Ries et al. 2007). The incidence of TGCT in the United States has steadily risen from 3.2 in 100,000 in 1973 to 5.3 per 100,000 in 2004 (54%) (Ries et al. 2007), mainly limited to the white population. However, TGCT is still relatively rare, accounting for only 2% of male malignancies. In 2007, it is estimated that 7,920 men will be diagnosed with TGCT in the United States (Ries et al. 2007). TGCT has been described as “a model for a curable neoplasm,” since most patients will be cured and become long-term survivors.

Currently, the prognosis and treatment of patients with TGCT is based upon the histology of the tumor and stage at presentation. There are two major histologic subtypes of TGCT: seminomas and nonseminomas (also known as nonseminomatous germ cell tumor); each subtype constitutes ∼50% of TGCT diagnoses. Standard pathological analysis is used mainly to discriminate between seminoma and nonseminoma. However, immunohistochemical markers are a very useful adjunct to characterize the different subtypes of nonseminoma, embryonal carcinoma, teratoma, yolk sac tumor and choriocarcinoma, and seminoma. A panel of PLAP (placental-like alkaline phosphatase), Oct3/4, CD30, cytokeratin, AFP (alpha-fetoprotein), and HCG (human chorionic gonadotropin) can be used to identify the different types of TGCT. Seminomas are positive for PLAP and Oct3/4, embryonal carcinoma PLAP, Oct3/4, CD30 and cytokeratin, yolk sac tumor cytokeratin and AFP, and choriocarcinoma HCG.


Germ Cell Germ Cell Tumor Embryonal Carcinoma Primordial Germ Cell Testicular Germ Cell Tumor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Medicine, Division of Medical GeneticsUniversity of Pennsylvania School of MedicinePhiladelphiaUSA

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