Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism

• DOI: 10.1038/316330a0
• Publication Date: 2004-11-18T03:27:02Z
• Authors: Alex Koufos; Marc F. Hansen; Neal G. Copeland; Nancy A. Jenkins; Beatrice C. Lampkin; Webster K. Cavenee
• Keywords: Hepatoblastoma; Embryonal rhabdomyosarcoma; Beckwith–Wiedemann syndrome

Children with the Beckwith-Wiedemann syndrome have a greatly increased potential for the specific development of the embryonal tumours hepatoblastoma, rhabdomyosarcoma and Wilms' tumour. Data obtained with molecular probes suggest that the association between these disparate, rare tumour types reflects a common pathogenetic mechanism that entails the somatic development of homozygosity for a mutant allele at a locus on human chromosome 11.