Abstract
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.
MeSH terms
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Antineoplastic Agents / administration & dosage
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Antineoplastic Agents / pharmacokinetics*
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Antineoplastic Agents / therapeutic use
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Antineoplastic Combined Chemotherapy Protocols / administration & dosage
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Antineoplastic Combined Chemotherapy Protocols / pharmacology
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
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Chemotherapy, Adjuvant
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Combined Modality Therapy
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DNA, Neoplasm / genetics
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Dactinomycin / administration & dosage
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Dactinomycin / pharmacology
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Doxorubicin / administration & dosage
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Doxorubicin / pharmacology
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Drug Resistance, Neoplasm / genetics*
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Exons / genetics
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Female
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Frameshift Mutation
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Genes, Wilms Tumor*
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Germ-Line Mutation*
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Humans
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Infant
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Kidney Neoplasms / drug therapy
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Kidney Neoplasms / genetics
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Kidney Neoplasms / metabolism*
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Kidney Neoplasms / surgery
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Loss of Heterozygosity
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Metabolic Clearance Rate
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Nephrectomy
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Peritoneal Dialysis
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Polymorphism, Single Nucleotide
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RNA Splice Sites / genetics*
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Sequence Analysis, DNA
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Topotecan / administration & dosage
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Topotecan / pharmacokinetics*
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Topotecan / therapeutic use
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Vincristine / administration & dosage
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Vincristine / pharmacology
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Wilms Tumor / drug therapy
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Wilms Tumor / genetics
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Wilms Tumor / metabolism*
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Wilms Tumor / surgery
Substances
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Antineoplastic Agents
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DNA, Neoplasm
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RNA Splice Sites
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Dactinomycin
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Vincristine
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Topotecan
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Doxorubicin