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J Med Genet 2002;39:e83 doi:10.1136/jmg.39.12.e83
  • Online mutation report

Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT)

  1. R Shibata1,
  2. A Hashiguchi1,
  3. J Sakamoto2,
  4. T Yamada1,
  5. A Umezawa1,
  6. J Hata1
  1. 1Department of Pathology, Keio University School of Medicine, Tokyo, Japan
  2. 2Department of Paediatric Surgery, University of Tokyo Faculty of Medicine, Tokyo, Japan
  3. 3National Research Institute for Child Health and Development, Tokyo, Japan
  1. Correspondence to:
 Dr J Hata, National Research Institute for Child Health and Development, 3-35-31 Taishido Setagaya-ku, Tokyo 154-8567, Japan;
 jhata{at}nch.go.jp

    Wilms tumour (WT) is the most common malignant neoplasm of the kidney in childhood and accounts for approximately 8% of all childhood solid tumours.1,2 Fetal rhabdomyomatous nephroblastoma (FRN) is a histological variant of WT characterised by a predominance of rhabdomyogenic components. Clinically, WT of the FRN type presents as a huge mass in younger patients and about 30% of them have bilateral disease. The tumour rarely metastasises or shows aggressive behaviour and it has a good prognosis.3 The Wilms tumour suppressor gene (WT1) on chromosome 11p13 was identified in 1990 and encodes a transcriptional factor containing a domain of four zinc finger motifs.4,5 Schumacher et al6 reported that a germline mutation in WT1 predisposes to the development of tumours with stromal predominant histology.6 We analysed germline and tumour WT1 in seven cases of WT that were diagnosed as FRN histologically, or contained rhabdomyogenic components, and found the same mutation in five of them.

    PATIENTS AND METHODS

    Patients

    Seven cases of WT who were treated surgically between 1998 and 2001 and contained abundant striated muscle as a stromal component histologically were studied. Cases 3, 4, 5, and 6 also had genitourinary tract malformations (table 1). Cases 3 and 6 were associated with cryptorchidism, case 4 with bilateral cryptorchidism and hypospadias, and case 5 with left ovarian dysgenesis. The tumour was bilateral in every case except case 2. None of the patients showed evidence of renal dysfunction or renal failure. Fresh tumour tissue and peripheral blood samples were obtained from all seven patients. Non-tumorous renal tissue was obtained from case 2. Informed consent was obtained from all patients or their parents.

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    Table 1

    Clinical and histological features and the results of WT1 mutations

    Key points

    • We analysed WT1 in seven cases of Wilms tumour (WT). The histology of these cases mostly …

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