Clinical and genetic aspects of testicular germ cell tumours

Hereditary Cancer in Clinical Practice

Harald J Hoekstra¹  Dirk T Sleijfer³  Josette EHM Hoekstra-Weebers⁵  Rolf H Sijmons²  Martijn F Lutke Holzik⁴ 

[1] Department of Surgical Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;Department of Surgery, Medisch Spectrum Twente, Enschede, The Netherlands;Comprehensive Cancer Center North-Netherlands, Groningen, The Netherlands

关键词: review;    therapy;    familial;    genetics;    testicular germ cell tumour;   

Others  :  810698
DOI  :  10.1186/1897-4287-6-1-3

 received in 2008-02-01, accepted in 2008-02-12,  发布年份 2008

【 摘 要 】

In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in recent years. Fortunately, survival of patients with TGCT has improved enormously, which can chiefly be attributed to the cisplatin-based polychemotherapy that was introduced in the nineteen eighties to treat patients with metastasized TGCT. In addition, new strategies have been developed in the surgical approach to metastasized/non-metastasized TGCT and alterations have been made to the radiotherapy technique and radiation dose for seminoma. Family history of TGCT is among the strongest risk factors for this tumour type. Although this fact and others suggest the existence of genetic predisposition to develop TGCT, no germline mutations conferring high risk of developing TGCT have been identified so far. A small deletion, referred to as gr/gr, identified on the Y chromosome is probably associated with only a modest increase in TGCT risk, and linkage of familial TGCT to the Xq27 region has not been confirmed yet. Whether highly penetrant TGCT-predisposing mutations truly exist or familial clustering of TGCT can be explained by combinations of weak predispositions, shared in utero or postnatal risks factors and coincidental somatic mutations is an intriguing puzzle, still waiting to be solved.

   

【 图 表 】

Figure 1.

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