Topotecan distribution in an anephric infant with therapy resistant bilateral Wilms tumor with a novel germline WT1 gene mutation

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• 作者：Rieneke T. Lugtenberg ; Karlien Cransberg ; Walter J. Loos ; Anja Wagner ; Marielle Alders and Marry M. van den Heuvel-Eibrink
• 关键词：Bilateral Wilms tumor ; Topotecan ; Anephric infant ; Therapy resistance ; Novel WT1 mutation
• 刊名：Cancer Chemotherapy and Pharmacology
• 出版年：2008
• 出版时间：November, 2008
• 年：2008
• 卷：62
• 期：6
• 页码：1039-1044
• 全文大小：386.4 KB

文摘

The therapeutic strategy for bilateral Wilms tumor (WT) remains a challenge. Especially in cases with chemotherapy resistant disease, bilateral nephrectomy is sometimes inevitable. For optimal cure rates stage V WT patients benefit from adjuvant treatment; however, there are limited data available on chemotherapy pharmacokinetics in anephric children. In this report, we describe a 10-month old girl with bilateral Wilms tumor and a novel germline WT1 gene mutation. This patient hardly showed any response on preoperative chemotherapy, and ultimately, underwent sequential bilateral tumor-nephrectomy. Subsequently, during peritoneal dialysis, she received topotecan as adjuvant chemotherapy based on plasma levels, indicating that this is a reasonable option as adjuvant treatment in therapy-resistant Wilms tumor patients after bilateral nephrectomy. This case showed a novel germline WT1 gene mutation of which the correlation with resistant phenotype has to be confirmed in larger cohorts of WT patients.