Syndromic aspects of testicular carcinoma.
BACKGROUND
In patients with hereditary or constitutional chromosomal anomalies, testicular carcinoma can develop sporadically or on the basis of an underlying hereditary genetic defect. Greater knowledge of these genetic defects would provide more insight into the molecular pathways that lead to testicular carcinoma. To the authors' knowledge, little attention has been paid to date to the comorbid occurrence of testicular carcinoma in patients with hereditary disorders or constitutional chromosomal anomalies.


METHODS
The authors performed a review of the literature.


RESULTS
Twenty-five different hereditary disorders or constitutional chromosomal anomalies have been reported in patients who developed seminomatous or nonseminomatous testicular carcinoma.


CONCLUSIONS
Although most of these malignancies were too rare to enable the detection of statistically significant correlations between the chromosomal/hereditary disorder and the testicular tumor, it was striking that many of the patients had also other urogenital abnormalities. Susceptibility to urogenital abnormalities seems to disrupt normal urogenital differentiation and suggests a correlation with testicular dysgenesis and, thus, also with testicular carcinoma. Other evidence of causal involvement has been found in the field of tumor cytogenetics. Some of the genes responsible for hereditary disorders have been mapped to regions that are of interest in the development of sporadic testicular carcinoma. Molecular studies on candidate genes will be required to provide definite answers. Completion of the human gene map and the availability of advanced gene arrays and bioinformatics are expected to greatly facilitate further exploration of the role of hereditary genetic defects in testicular carcinoma.
Lutke Holzik
Martijn F
MF
Department of Surgical Oncology, University Medical Center Groningen, Groningen, The Netherlands.
Sijmons
Rolf H
RH
Sleijfer
Dirk T
DT
Sonneveld
Dirk J A
DJ
Hoekstra-Weebers
Josette E H M
JE
van Echten-Arends
Jannie
J
Hoekstra
Harald J
HJ
D002277:Carcinoma / Q000150:complications*; D025063:Chromosome Disorders / Q000150:complications*; D015897:Comorbidity; D006801:Humans; D008297:Male; D012307:Risk Factors; D013577:Syndrome; D013736:Testicular Neoplasms / Q000150:complications*