No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with denys-drash syndrome

Abstract

Background: We previously reported the case of a patient affected with Denys-Drash syndrome (DDS), who developed disseminated EBV-related Burkitt's lymphoma (BL) after kidney transplantation. Here, we describe the molecular characterisation of the WTI gene in the constitutional and turnour DNA of this patient. Patients and methods: WTI exons 2 to 10 were sequenced in constitutional and tumour DNAs. By Southern blotting the latter was also investigated for the presence of gene rearrangements. Gene expression analysis in tumour cells was performed by reverse transcriptase-polymerase chain reaction (RT-PCR). Results: A germline missense mutation affecting one of the zinc finger domains of the gene, and previously reported in other DDS cases, was observed. No alterations of the constitutionally wild-type WTI allele and no expression of the gene were observed in BL cells. A small group of BLs from other paediatric patients showed a variable expression of WTI. Conclusions: Our findings indicate that WT1 is unlikely to be involved in the onset of BL in our case. However, a possible role of the gene in at least a subset of these lymphoproliferative diseases may be suggested.