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

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Item Type:	Article
Title:	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
Creators Name:	Trappe, R.U., Riess, H., Lippek, F., Plotkin, M., Schumacher, V., Royer-Pokora, B., Hildebrandt, B., Zuber, J., Mapara, M.Y., Oertel, S. and Doerken, B.
Abstract:	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.
Keywords:	Wilms, Tumor, Nephroblastoma, Relapse, High-dose chemotherapy, Autologous stem cell rescue, WTI mutation
Source:	Journal of Pediatric Hematology Oncology
ISSN:	1077-4114
Volume:	26
Page Range:	820-823
Date:	1 January 2004
PubMed:	View item in PubMed

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