No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with Denys-Drash syndrome.
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 WT1 gene in the constitutional and tumour DNA of this patient.


METHODS
WT1 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 WT1 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 WT1.


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.
Division of Paediatric Oncology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy.
D
D
Perotti
P
P
Mondini
R
R
Giardini
A
A
Ferrari
M
M
Massimino
F
F
Gambirasio
M A
MA
Pierotti
F
F
Fossati-Bellani
P
P
Radice
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002051:Burkitt Lymphoma / Q000235:genetics*; D002648:Child; D004273:DNA, Neoplasm / Q000032:analysis*; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000235:genetics*
D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins