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.

Anephric infant, Bilateral Wilms tumor, Novel WT1 mutation, Therapy resistance, Topotecan,
Cancer Chemotherapy and Pharmacology
Erasmus MC: University Medical Center Rotterdam

Lugtenberg, R.T, Cransberg, K, Loos, W.J, Wagner, A, Alders, M, & van den Heuvel-Eibrink, M.M. (2008). Topotecan distribution in an anephric infant with therapy resistant bilateral Wilms tumor with a novel germline WT1 gene mutation. Cancer Chemotherapy and Pharmacology, 62(6), 1039–1044. doi:10.1007/s00280-008-0694-x