Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibroma
(2005) In International Journal of Cancer 117(6). p.1055-1057- Abstract
- Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1. NF1 is caused by constitutional mutations in the NF1 gene, located in chromosome band 17q11 Whereas the involvement of the NF1 gene in neurofibroma development in NF1 patients has been fairly well characterized, the significance of inactivation of this gene in sporadic neurofibromas remains less well investigated. Inactivation of both copies of NF1 has been described in a few neurofibromas from NF1 patients, and LOH at the same locus has been reported in additional cases. In the present study, we report the cytogenetic and molecular cytogenetic findings in a... (More)
- Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1. NF1 is caused by constitutional mutations in the NF1 gene, located in chromosome band 17q11 Whereas the involvement of the NF1 gene in neurofibroma development in NF1 patients has been fairly well characterized, the significance of inactivation of this gene in sporadic neurofibromas remains less well investigated. Inactivation of both copies of NF1 has been described in a few neurofibromas from NF1 patients, and LOH at the same locus has been reported in additional cases. In the present study, we report the cytogenetic and molecular cytogenetic findings in a sporadic neurofibroma that at G-banding analysis showed a translocation between one chromosome 2 and the long arms of both copies of chromosome 17. FISH analysis using a set of 3 BAC clones covering the entire coding region of NF1 revealed the complete loss of one allele and the deletion of the 5' portion of the second allele as a result of 2 translocation events. To the best of our knowledge, this represents the first demonstration of a somatic biallelic inactivation of the NF1 gene in neurofibroma, providing further evidence for the importance of NF1 inactivation also in sporadic neurofibromas. (Less)
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https://lup.lub.lu.se/record/212216
- author
- Storlazzi, CT ; Vult von Steyern, Fredrik LU ; Domanski, Henryk LU ; Mandahl, Nils LU and Mertens, Fredrik LU
- organization
- publishing date
- 2005
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- tumor suppressor, inactivation, FISH, neurofibroma, neurofibromatosis
- in
- International Journal of Cancer
- volume
- 117
- issue
- 6
- pages
- 1055 - 1057
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- wos:000233384900024
- pmid:15986446
- scopus:28044469883
- pmid:15986446
- ISSN
- 0020-7136
- DOI
- 10.1002/ijc.21248
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Pathology, (Lund) (013030000), Department of Orthopaedics (Lund) (013028000)
- id
- ab9b6e57-c977-404d-a399-dd133b41e264 (old id 212216)
- date added to LUP
- 2016-04-01 12:21:08
- date last changed
- 2022-01-27 02:29:30
@article{ab9b6e57-c977-404d-a399-dd133b41e264,
abstract = {{Neurofibroma is a benign tumor originating from Schwann cells in peripheral nerve sheaths and may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome NF1. NF1 is caused by constitutional mutations in the NF1 gene, located in chromosome band 17q11 Whereas the involvement of the NF1 gene in neurofibroma development in NF1 patients has been fairly well characterized, the significance of inactivation of this gene in sporadic neurofibromas remains less well investigated. Inactivation of both copies of NF1 has been described in a few neurofibromas from NF1 patients, and LOH at the same locus has been reported in additional cases. In the present study, we report the cytogenetic and molecular cytogenetic findings in a sporadic neurofibroma that at G-banding analysis showed a translocation between one chromosome 2 and the long arms of both copies of chromosome 17. FISH analysis using a set of 3 BAC clones covering the entire coding region of NF1 revealed the complete loss of one allele and the deletion of the 5' portion of the second allele as a result of 2 translocation events. To the best of our knowledge, this represents the first demonstration of a somatic biallelic inactivation of the NF1 gene in neurofibroma, providing further evidence for the importance of NF1 inactivation also in sporadic neurofibromas.}},
author = {{Storlazzi, CT and Vult von Steyern, Fredrik and Domanski, Henryk and Mandahl, Nils and Mertens, Fredrik}},
issn = {{0020-7136}},
keywords = {{tumor suppressor; inactivation; FISH; neurofibroma; neurofibromatosis}},
language = {{eng}},
number = {{6}},
pages = {{1055--1057}},
publisher = {{John Wiley & Sons Inc.}},
series = {{International Journal of Cancer}},
title = {{Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibroma}},
url = {{http://dx.doi.org/10.1002/ijc.21248}},
doi = {{10.1002/ijc.21248}},
volume = {{117}},
year = {{2005}},
}