Clinical and genetic aspects of testicular germ cell tumours

Martijn F. Lutke Holzik*, Rolf H. Sijmons, Josette E. H. M. Hoekstra-Weebers, Dirk Th. Sleijfer, Harald J. Hoekstra

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)
168 Downloads (Pure)

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 for. 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.

Original languageEnglish
Pages (from-to)3-14
Number of pages12
JournalHereditary cancer in clinical practice
Volume6
Issue number1
DOIs
Publication statusPublished - 15-Mar-2008

Keywords

  • testicular germ cell tumour
  • genetics
  • familial
  • therapy
  • review
  • LONG-TERM SURVIVORS
  • CARCINOMA IN-SITU
  • CANCER-PATIENTS
  • DEVELOPMENTAL ANOMALIES
  • DOWNS-SYNDROME
  • SOLID TUMORS
  • RISK
  • SUSCEPTIBILITY
  • INFERTILITY
  • TESTIS

Cite this