Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas
- PMID: 15066327
- DOI: 10.1016/j.cancergencyto.2003.09.001
Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition associated with germline mutations of the NF1 gene located at chromosome band 17q11.2. Molecular analysis of a number of NF1-specific tumors has shown the inactivation of both NF1 alleles during tumorigenesis, supporting the tumor suppressor hypothesis for the NF1 gene. Using interphase dual-color fluorescence in situ hybridization (FISH) technique on paraffin-embedded tissues, we studied 11 plexiform, 4 cutaneous, and 6 subcutaneous neurofibromas. Cytogenetic analysis was conducted using two probes, one specific for the NF1 region (RP11-229K15) and one for the centromeric region of chromosome 17 as control. No large somatic deletions were found. Only in one of the plexiform neurofibromas loss of a whole chromosome 17 was observed. If we assume that dual-color FISH analysis is sensitive enough to detect the majority of large somatic deletions present, then other mutational mechanisms affecting the NF1 gene are probably involved in neurofibroma formation, and other tumor suppressor genes may play an important role in NF1 tumorigenesis.
Similar articles
-
Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.Genes Chromosomes Cancer. 2000 Aug;28(4):425-31. Genes Chromosomes Cancer. 2000. PMID: 10862051
-
Frequent genomic imbalances in chromosomes 17, 19, and 22q in peripheral nerve sheath tumours detected by comparative genomic hybridization analysis.J Pathol. 2002 May;197(1):98-107. doi: 10.1002/path.1101. J Pathol. 2002. PMID: 12081210
-
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.Nat Genet. 1995 Sep;11(1):90-2. doi: 10.1038/ng0995-90. Nat Genet. 1995. PMID: 7550323
-
[From gene to disease; neurofibromatosis type 1].Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Ned Tijdschr Geneeskd. 2001. PMID: 11572174 Review. Dutch.
-
[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].Lijec Vjesn. 2005 Nov-Dec;127(11-12):303-11. Lijec Vjesn. 2005. PMID: 16583938 Review. Croatian.
Cited by
-
The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.Onco Targets Ther. 2018 Feb 21;11:919-932. doi: 10.2147/OTT.S156998. eCollection 2018. Onco Targets Ther. 2018. PMID: 29503567 Free PMC article.
-
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.J Med Genet. 2007 Dec;44(12):800-8. doi: 10.1136/jmg.2007.053785. J Med Genet. 2007. PMID: 18055911 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Research Materials
Miscellaneous
