Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

Alessandro De Luca, Laura Bernardini, Caterina Ceccarini, Lorenzo Sinibaldi, Antonio Novelli, Sandra Giustini, Innocenzi Daniele, Stefano Calvieri, Rita Mingarelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)168-172
Number of pages5
JournalCancer Genetics and Cytogenetics
Volume150
Issue number2
DOIs
Publication statusPublished - Apr 15 2004

Fingerprint

Neurofibroma
Chromosomes, Human, Pair 17
Neurofibromatosis 1
Loss of Heterozygosity
Fluorescence In Situ Hybridization
Neurofibromatosis 1 Genes
Carcinogenesis
Color
Plexiform Neurofibroma
Germ-Line Mutation
Cytogenetic Analysis
Interphase
Tumor Suppressor Genes
Paraffin
Neoplasms
Chromosomes
Alleles
Skin

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas. / De Luca, Alessandro; Bernardini, Laura; Ceccarini, Caterina; Sinibaldi, Lorenzo; Novelli, Antonio; Giustini, Sandra; Daniele, Innocenzi; Calvieri, Stefano; Mingarelli, Rita.

In: Cancer Genetics and Cytogenetics, Vol. 150, No. 2, 15.04.2004, p. 168-172.

Research output: Contribution to journalArticle

@article{661df9d790b54c49afe0054e8cf24c37,
title = "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.",
author = "{De Luca}, Alessandro and Laura Bernardini and Caterina Ceccarini and Lorenzo Sinibaldi and Antonio Novelli and Sandra Giustini and Innocenzi Daniele and Stefano Calvieri and Rita Mingarelli",
year = "2004",
month = "4",
day = "15",
doi = "10.1016/j.cancergencyto.2003.09.001",
language = "English",
volume = "150",
pages = "168--172",
journal = "Cancer Genetics and Cytogenetics",
issn = "0165-4608",
publisher = "Elsevier Inc.",
number = "2",

}

TY - JOUR

T1 - Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas

AU - De Luca, Alessandro

AU - Bernardini, Laura

AU - Ceccarini, Caterina

AU - Sinibaldi, Lorenzo

AU - Novelli, Antonio

AU - Giustini, Sandra

AU - Daniele, Innocenzi

AU - Calvieri, Stefano

AU - Mingarelli, Rita

PY - 2004/4/15

Y1 - 2004/4/15

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=1842506361&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1842506361&partnerID=8YFLogxK

U2 - 10.1016/j.cancergencyto.2003.09.001

DO - 10.1016/j.cancergencyto.2003.09.001

M3 - Article

C2 - 15066327

AN - SCOPUS:1842506361

VL - 150

SP - 168

EP - 172

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

SN - 0165-4608

IS - 2

ER -