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Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Abstract
Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternally-inherited genes on chromosome 11p15. We report a child without clinical BWS, neonatally diagnosed with focal congenital hyperinsulinism resulting from a paternally-inherited recessively-acting mutation of ABCC8 and pancreatic paternal uniparental disomy (UPD) for chromosome 11p15, who subsequently developed hepatoblastoma. Genetic testing showed UPD 11p15 in the pancreas and liver but not systemically, allowing the expression of mutated ABCC8 in both tissues. Infants with large or multifocal forms of focal congenital hyperinsulinism may be at risk of BWS-like tumours due to mosaic UPD despite negative whole-blood and buccal DNA testing and tumour surveillance should be considered for this minority.
AuthorsElizabeth A Calton, I Karen Temple, Deborah J G Mackay, Margaret Lever, Sian Ellard, Sarah E Flanagan, Justin H Davies, Khalid Hussain, Juliet C Gray
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 56 Issue 2 Pg. 114-7 (Feb 2013) ISSN: 1878-0849 [Electronic] Netherlands
PMID23261959 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2013 Elsevier Masson SAS. All rights reserved.
Chemical References
  • ATP-Binding Cassette Transporters
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors
Topics
  • ATP-Binding Cassette Transporters (genetics)
  • Chromosomes, Human, Pair 11
  • Congenital Hyperinsulinism (complications, diagnosis, genetics)
  • Hepatoblastoma (diagnosis, genetics)
  • Humans
  • Infant
  • Liver Neoplasms (diagnosis, genetics)
  • Male
  • Microsatellite Repeats
  • Mosaicism
  • Mutation
  • Positron-Emission Tomography
  • Potassium Channels, Inwardly Rectifying (genetics)
  • Receptors, Drug (genetics)
  • Sulfonylurea Receptors
  • Tomography, X-Ray Computed
  • Uniparental Disomy

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