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Wilms Tumor Incidence in Children With 2q Terminal Deletions: A Cohort Study

Lookup NU author(s): Dr Elizabeth Jones, Dr Fiona Douglas, Dr Nicholas Bown


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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. (C) 2011 Wiley-Liss, Inc.

Publication metadata

Author(s): Jones EA, Stewart A, Stiller C, Douglas F, Bown N

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics Part A

Year: 2011

Volume: 155A

Issue: 9

Pages: 2221-2223

Print publication date: 03/08/2011

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ajmg.a.34117


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