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Genetic abnormalities in men with germ cell tumors.
F H Dexeus1, C J Logothetis, C Chong
1Department of Medical Oncology, University of Texas M. D. Anderson Hospital and Tumor Institute, Houston 77030.
The Journal of Urology
|July 1, 1988
Summary
Genetic abnormalities are more common in men with germ cell tumors. Klinefelter's syndrome was found in 21% of mediastinal germ cell tumor patients, and Down's syndrome and Marfan syndrome were also observed.
Area of Science:
- Oncology
- Genetics
- Urology
Background:
- Germ cell tumors (GCTs) are the most common solid tumors in young men.
- Genetic abnormalities may play a role in GCT development.
- Previous studies have suggested an association between GCTs and certain genetic conditions.
Purpose of the Study:
- To investigate the prevalence of genetic abnormalities in men with advanced germ cell tumors.
- To determine if specific genetic syndromes are associated with GCTs.
Main Methods:
- Retrospective review of clinical genetic data from 455 men with advanced GCTs.
- Analysis of tumor type (testicular, extragonadal) and location.
- Karyotyping for patients with suspected chromosomal abnormalities.
Main Results:
- Klinefelter's syndrome (47XXY or 48XXYY) was identified in 4 of 19 patients (21%) with mediastinal GCTs.
- No Klinefelter's syndrome was observed in patients with retroperitoneal or testicular GCTs.
- Two patients (0.5%) with testicular tumors had Down's syndrome, and two patients (0.5%) had Marfan syndrome.
Conclusions:
- Genetic abnormalities appear to be increased in men with germ cell tumors.
- Specific genetic syndromes, such as Klinefelter's, Down's, and Marfan syndrome, may be associated with GCTs.
- Further research is warranted to understand the significance of these associations.