Correlation between the WT1 suppressor gene and skin lesions: an alternative diagnostic-differential factor

The WT1 gene is located on the 11p13 chromosome. This transcription factor is expressed with a dynamic pattern during human development, has either oncogenic or suppressor tumour properties [1]. Its mutations or an increase in expression lead to the development of diseases such as Wilms’ tumour, leukaemia, Frasier’s syndrome or Denys-Drash syndrome [2, 3]. There are a few reports in the literature which confirm the role of this gene in the pathogenesis of skin diseases.
In 1994, Rodeck et al. proved that WT1 can be found in melanoma cells. Its presence was confirmed in seven out of nine cell lines tested. However, its overexpression in normal human melanocytes in any of the five strains was not observed [4]. Perry et al. reached similar conclusions in 2006. They found that overexpression of WT1 is more prominent in vertical growth melanoma than radial growth melanoma. Overall, the presence of WT1 was estimated to be approximately 50–80%, and out of all 49 samples, as many as 25 showed features of over 75% of suppressor gene overexpression. On the other hand, in the case of benign lesions, this range was about 7–30% [5].
Wagner et al. found in 2007 that the WT1 gene is present in over 80% of melanoma neoplastic cells. The attempt to inhibit WT1 resulted in a decrease in the activity of proteins such as zyxin and nestin. This led to a reduction in skin cancer proliferation [6]. Authors also analysed the presence of the WT1 gene in benign melanocytic nevi. Six out of the nine Spitz nevi showed WT1 expression in more than half of the affected cells. Three out of nine samples taken of melanotic nevi showed signs of WT1 in approximately 20% of the cells. Four out of nine dysplastic nevi were WT1 positive in about half of the cells, the rest in about 20%. However, its presence in the area of unaffected skin has not been confirmed. This study proves that the presence of WT1 may be an effective method for differentiating between skin lesions [6].
An analysis of the diagnostic effectiveness of melanoma based on the WT1 gene was carried out in 2017 by Kim et al. 35 samples of melanoma were used for the study, including 28 in the invasive stage and 50 melanotic nevi. Gene expression in invasive malignant melanoma reached the level of approx. 66%, while in other groups it reached a maximum of approx. 26%, which is a wide range that allows for obtaining relatively reliable results. Interestingly, in situ melanoma showed only about 6% of WT1....


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