Abstract
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.
Highlights
Testicular tumours can be divided into germ cell tumours, stromal tumours and other tumours
After patients with non-seminomatous testicular germ cell tumours (TGCTs) have completed chemotherapy, there is no indication for surgical resection when they do not show any residual disease, or the residual abnormality is smaller than 1 cm, the tumour markers have normalised and mature teratoma is absent from the primary tumour
In the current literature there are no data on the clinical behaviour of TGCT in patients with familial TGCT
Summary
Testicular tumours can be divided into germ cell tumours, stromal tumours and other tumours (e.g. malignant lymphomas). At the University Medical Center Groningen (UMCG), this multidisciplinary approach was started at the end of the nineteen seventies to provide every patient with tailored treatment. These accomplishments in the treatment of TGCT have led to the present goal of further optimising the treatment for TGCT, in which the research and treatment concentrate on reducing the toxic sideeffects of chemotherapy and radiotherapy. TGCT survivors are mostly young men who can be expected to have a long life ahead of them This has meant that over the past few years, scientific research has centred on studying the long-term effects of treatment [5,6,7,8] and the quality of life of these TGCT survivors [9]. All this research has the ultimate aim of achieving further improvement in the treatment and follow-up of TGCT patients
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