[Congenital urogenital malformations associated with nephroblastomas. Long-term results of a study in Erlangen].

BACKGROUND: Wilms' tumors are highly malignant tumors of the kidneys and are among the most frequent solid tumors of childhood, which are diagnosed for the most part before the 5th year. Various congenital anomalies are associated with a genetic predisposition and thus an increased risk of developing a Wilms' tumor. PATIENTS AND METHODS: As part of a retrospective analysis, the records from 1965 to 2003 of 66 patients with histologically confirmed Wilms' tumor were reviewed. The aim of this study was to determine the incidence and type of different urogenital malformations as well as the genetic mutations and overall survival in this patient group.
RESULTS: The patient cohort comprised 66 patients with histologically confirmed Wilms' tumor: 35 male patients (53%) and 31 female patients (47%). The overall survival after 10 years was 89.4%. All patients underwent radical nephrectomy: transperitoneal approach in 63 and lumbar approach in 3 patients. Eleven (16.7%) patients had diverse urogenital anomalies. A cytogenetic investigation was performed in 38 patients that revealed no pathological findings. The results of molecular genetic testing of tumor specimens were available for seven patients: a genetic mutation was detected in one case (heterozygous mutation R394 in exon 9 of the WT1 gene) which had already been described in the literature in conjunction with Denys-Drash syndrome. Hemihypertrophy with Beckwith-Wiedemann syndrome was present in two (3%) patients.
CONCLUSION: In patients with urogenital malformations and Wilms' tumor, it would be important to carry out further molecular genetic testing to identify possible WT1 gene mutations. Close interdisciplinary cooperation between urologists, specialists in human genetics, and pediatricians is imperative.