[Multicystic renal tumor in a patient with WAGR syndrome].
The WAGR syndrome is a combination of Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation. We report on a 2-year-old boy, who had a deletion of the aniridia gene PAX6 and the Wilms' tumor gene 1 (WT1 gene). At the age of 23 months, a 1.7 x 1.9 cm-sized intrarenal tumor was detected by ultrasound examination. According to the protocol of the SIOP study, a cycle of neoadjuvant chemotherapy was prescribed followed by a left-sided nephrectomy. However, postsurgical histomorphology failed to confirm the suspected diagnosis of Wilms' tumor and instead revealed dysgenetic cysts of the kidney. Based on the image morphology in connection with the deletion of the WT1 gene, the tentative diagnosis of a nephroblastoma had to be made. The study protocol of the SIOP does not permit another therapy algorithm.
Braun
K-P
KP
Urologische Klinik , Lehrkrankenhaus der Universitätsklinik Charité zu Berlin, Carl-Thiem-Klinikum Cottbus GmbH, Thiemstrasse 111, 03048 Cottbus, Germany.
May
M
M
Erler
T
T
Hoschke
B
B
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002675:Child, Preschool; D002872:Chromosome Deletion; D003131:Combined Modality Therapy; D003609:Dactinomycin / Q000008:administration & dosage / Q000009:adverse effects; D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics; D016162:Genes, Wilms Tumor; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000473:pathology; D007680:Kidney Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D008279:Magnetic Resonance Imaging; D008297:Male; D020360:Neoadjuvant Therapy; D009392:Nephrectomy; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D007690:Polycystic Kidney Diseases / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D012097:Repressor Proteins / Q000235:genetics; D014750:Vincristine / Q000008:administration & dosage / Q000009:adverse effects; D017624:WAGR Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D009396:Wilms Tumor / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D003609:Dactinomycin; D014750:Vincristine