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Am J Med Genet A. 2011 Sep;155A(9):2221-3. doi: 10.1002/ajmg.a.34117. Epub 2011 Aug 3.

Wilms tumor incidence in children with 2q terminal deletions: a cohort study.

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Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital, Manchester, UK.


Three individuals with chromosome 2q terminal deletions have been reported in the medical literature to have developed Wilms tumor. By looking at a UK national cohort, we aimed to ascertain the chance of an individual with a 2q terminal deletion developing a Wilms tumor. The objective was to clarify screening recommendations. All individuals over a 40-year period with chromosome 2q terminal deletions were ascertained from the Chromosome Abnormality Database. The names and dates of birth of these individuals were obtained from the Regional Cytogenetic Departments where the original chromosome analyses were performed. These data were collated and compared with the National Registry of Childhood Tumors. One hundred twenty-nine subjects were identified over a 40-year study period. Only a single individual in our national cohort was affected by Wilms tumor. This individual had an add(2)(q35) karyotype. We conclude that the incidence of Wilms tumor in the majority of individuals with a 2q terminal deletion is low, and is below the recommended threshold for surveillance for tumor development.

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