Title: Pathogenesis of vestibular schwannoma in ring chromosome 22
Authors: Denayer, Ellen
Brems, Hilde
De Cock, Paul
Evans, Gareth D
Van Calenbergh, Frank
Bowers, Naomi
Sciot, Raphael
Debiec-Rychter, Maria
Vermeesch, Joris
Fryns, Jean-Pierre
Legius, Eric # ×
Issue Date: 2009
Publisher: BioMed Central
Series Title: BMC Medical Genetics vol:10 pages:97
Article number: 0.1186/1471-2350-10-97
Abstract: BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet. METHODS: We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism. Peripheral blood lymphocytes were karyotyped and array CGH was performed on extracted DNA. At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma. Tumour cells were analyzed by karyotyping, array CGH and NF2 mutation analysis. RESULTS: Karyotype on peripheral blood lymphocytes revealed a ring chromosome 22 in all analyzed cells. A 1 Mb array CGH experiment on peripheral blood DNA showed a deletion of 5 terminal clones on the long arm of chromosome 22. Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22. CONCLUSION: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22. Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence.
ISSN: 1471-2350
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
Molecular Genetics Section (-)
Brain & Metabolism Section (-)
Research Group Experimental Neurosurgery and Neuroanatomy
Clinical Genetics Section (-)
Laboratory for Neurofibromatosis Research
Laboratory for Genetics of Malignant Disorders
Youth Health (-)
× corresponding author
# (joint) last author

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