title: Responsiveness of chemotherapy based on the histological type and Wilms' tumor suppressor gene mutation in bilateral Wilms' tumor.
abstract: To clarify a characteristic of bilateral Wilms' tumor (WT), we examined the clinical and histological features, chemotherapy response and mutations in Wilms' tumor suppressor gene (WT1) in five patients. Deoxyribonucleic acid was extracted from peripheral lymphocytes and tumor samples, and direct DNA sequencing was performed to detect WT1 mutations. Paraffin sections were stained with H&E for histological review and immunostained with anti-WT1, anti-Ki-67, anti-S-100 protein and antimyogenin antibodies. In contrast to the single case of epithelial-type WT, the other four cases were fetal rhabdomyomatous nephroblastoma (FRN) or contained a premature skeletal muscle component and appeared to be resistant to chemotherapy because there was no reduction in tumor volume. However, after chemotherapy, most of the tumor components changed into mature striated muscle cells, most of which immunostained almost completely negative for Ki-67. All four cases had the same point mutation of WT1. From our results, the histological findings correlated with WT1 mutations in bilateral WT. The tumor volume of FRN did not decrease in response to chemotherapy. It is possible to predict the chemotherapy response by examining bilateral WT for WT1 mutations and the histological characteristics of tumors.
authors.affiliation: Department of Pathology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Shibata
authors.forename: Ayako
authors.initials: A
authors.lastname: Takata
authors.forename: Akinori
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Umezawa
authors.forename: Taketo
authors.initials: T
authors.lastname: Yamada
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Hata
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D018572:Disease-Free Survival; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D016896:Treatment Outcome; D025721:WT1 Proteins / Q000032:analysis / Q000235:genetics*; D009396:Wilms Tumor / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; D017931:DNA Primers; D004273:DNA, Neoplasm; D025721:WT1 Proteins