Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms' tumor and a novel alteration in intron 1 of the WT1 gene.
Adult Wilms' tumor (AWT) is a very rare and aggressive malignancy, and little information is available on effective therapy in adults. Although mutations in WT1 have been found in 10% to 15% of childhood Wilms' tumor patients, to date WT1 mutations in AWT patients have not been described. The authors describe a 47-year-old man with relapsed AWT and a novel germline alteration in intron 1 of WT1: IVS1-6 C-->A. This alteration may reduce the splicing efficiency for exon 2 and possibly results in exon skipping. The effective salvage chemotherapy contained ifosfamide, carboplatin, and etoposide and was followed by a high-dose chemotherapy that contained melphalan, carboplatin, and etoposide. Both chemotherapy regimens showed moderate treatment-related toxicity. This report is the first that indicates that adult nephroblastoma patients also may carry WT1 germline mutations.
Trappe
Ralf Ulrich
RU
Department of Hematology and Oncology, Charité University Hospital Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany. ralf_ulrich.trappe@charite.de
Riess
Hanno
H
Lippek
Frank
F
Plotkin
Michail
M
Schumacher
Valerie
V
Royer-Pokora
Brigitte
B
Hildebrandt
Bert
B
Zuber
Johannes
J
Mapara
Markus Y
MY
Oertel
Stephan
S
Dörken
Bernd
B
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D016190:Carboplatin / Q000008:administration & dosage; D004305:Dose-Response Relationship, Drug; D005047:Etoposide / Q000008:administration & dosage; D016162:Genes, Wilms Tumor; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D008558:Melphalan / Q000008:administration & dosage; D008875:Middle Aged; D016879:Salvage Therapy; D033581:Stem Cell Transplantation; D014182:Transplantation, Autologous; D016896:Treatment Outcome; D009396:Wilms Tumor / Q000188:drug therapy* / Q000235:genetics*
D005047:Etoposide; D016190:Carboplatin; D008558:Melphalan