The genetics of BWS associated tumors

Childhood tumors associated with the Beckwith-Wiedemann syndrome (BWS) all show abnormalities of the same region on chromosome 11 when occurring sporadically. In addition to chromosome 11 there are other chromosome regions which are affected in some of these tumor types. In this study we analyzed the region on chromosome lp which is involved in the etiology of the BWS-associated tumors Wilms tumor, rhabdomyosarcoma and hepatoblastoma. For this purpose we determined the location of two novel translocation breakpoints in this chromosome region in cells from a Wilms tumor and cells from a rhabdomyosarcoma. We constructed a map of the region and found that both breakpoints are separated by at least 875 kb. We did identify a PAC clone which crosses the rhabdomyosarcoma breakpoint and found several exons within this clone. We established that this breakpoint is located proximal to the PAX7 gene and therefore identified a new region involved in the etiology of rhabdomyosarcomas.

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