Lugtenberg Rieneke T, Cransberg Karlien, Loos Walter J, Wagner Anja, Alders Marielle, van den Heuvel-Eibrink Marry M
Department of Pediatric Hematology/Oncology, Erasmus MC-Sophia Children's Hospital, Room Sp2568, P. O. Box 2060, 3000 CB Rotterdam, The Netherlands.
Cancer Chemother Pharmacol. 2008 Nov;62(6):1039-44. doi: 10.1007/s00280-008-0694-x. Epub 2008 Feb 14.
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.
双侧肾母细胞瘤（WT）的治疗策略仍然是一项挑战。特别是对于化疗耐药的病例，双侧肾切除术有时是不可避免的。为了获得最佳治愈率，V期WT患者可从辅助治疗中获益；然而，关于无肾儿童化疗药代动力学的数据有限。在本报告中，我们描述了一名患有双侧肾母细胞瘤且携带新型胚系WT1基因突变的10个月大女孩。该患者术前化疗几乎没有任何反应，最终接受了序贯双侧肿瘤肾切除术。随后，在腹膜透析期间，她根据血浆水平接受了拓扑替康作为辅助化疗，这表明这是双侧肾切除术后治疗耐药性肾母细胞瘤患者辅助治疗的合理选择。该病例显示了一种新型胚系WT1基因突变，其与耐药表型的相关性必须在更大的WT患者队列中得到证实。
