Title: Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma
Authors: Beert, Eline
Brems, Hilde
Renard, Marleen
Finalet Ferreiro, Julio
Melotte, Cindy
Thoelen, Reinhilde
De Wever, Ivo
Sciot, Raf
Legius, Eric
Debiec-Rychter, Maria # ×
Issue Date: Sep-2012
Publisher: Wiley-Liss, Inc.
Series Title: Genes, Chromosomes & Cancer vol:51 issue:9 pages:852-857
Article number: 10.1002/gcc.21969
Abstract: Plexiform neurofibromas are a major cause of morbidity in individuals with neurofibromatosis type 1 (NF1). Sporadically, these tumors appear as an isolated feature without other signs of NF1. A role for the NF1 gene in solitary plexiform neurofibromas has never been described. In this study, we report a 13-year-old boy who was diagnosed with a plexiform neurofibroma, without other NF1 diagnostic criteria. The tumor was partially resected and analyzed using different techniques: karyotyping, fluorescence in situ hybridization (FISH), and microarray comparative genomic hybridization (aCGH). Tumor Schwann cell culture and subsequent karyotyping showed a rearrangement involving chromosomes 1 and 17, namely an insertion of chromosomal bands 1p36-35 at 17q11.2. FISH demonstrated that the insertion interrupted the NF1 gene. In addition, a deletion was detected affecting the other NF1 allele. Whole-genome aCGH analysis of the resected tumor confirmed the presence of an 8.28 Mb deletion including the NF1 gene locus in ∼15-20% of tumor cells. We conclude that biallelic NF1 inactivation was at the origin of the isolated plexiform neurofibroma in this patient. The insertion is most likely the "first hit" and the large deletion the "second hit." © 2012 Wiley Periodicals, Inc.
ISSN: 1045-2257
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Malignant Disorders
Translational Cell & Tissue Research
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

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