PMID- 22585738
OWN - NLM
STAT- MEDLINE
DCOM- 20121129
LR  - 20221109
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 51
IP  - 9
DP  - 2012 Sep
TI  - Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.
PG  - 852-7
LID - 10.1002/gcc.21969 [doi]
AB  - 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 
       approximately 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."
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Beert, Eline
AU  - Beert E
AD  - Department of Human Genetics, KU Leuven, Leuven, Belgium.
FAU - Brems, Hilde
AU  - Brems H
FAU - Renard, Marleen
AU  - Renard M
FAU - Ferreiro, Julio Finalet
AU  - Ferreiro JF
FAU - Melotte, Cindy
AU  - Melotte C
FAU - Thoelen, Reinhilde
AU  - Thoelen R
FAU - De Wever, Ivo
AU  - De Wever I
FAU - Sciot, Raf
AU  - Sciot R
FAU - Legius, Eric
AU  - Legius E
FAU - Debiec-Rychter, Maria
AU  - Debiec-Rychter M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120514
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Neurofibromin 1)
SB  - IM
MH  - Adolescent
MH  - Alleles
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Comparative Genomic Hybridization
MH  - Gene Expression Regulation, Neoplastic
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Neurofibroma, Plexiform/*genetics/pathology
MH  - Neurofibromin 1/*genetics
MH  - *Sequence Deletion
EDAT- 2012/05/16 06:00
MHDA- 2012/12/10 06:00
CRDT- 2012/05/16 06:00
PHST- 2012/02/27 00:00 [received]
PHST- 2012/04/13 00:00 [accepted]
PHST- 2012/05/16 06:00 [entrez]
PHST- 2012/05/16 06:00 [pubmed]
PHST- 2012/12/10 06:00 [medline]
AID - 10.1002/gcc.21969 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2012 Sep;51(9):852-7. doi: 10.1002/gcc.21969. Epub 2012 
      May 14.