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Cytogenetic and fluorescence in situ hybridization characterization of chromosome 8 rearrangements in head and neck squamous cell carcinomas

Jin, Y LU ; Jin, C LU ; Wennerberg, J LU ; Höglund, M LU and Mertens, F LU (2001) In Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00 130(2). p.111-117
Abstract

Structural rearrangements of chromosome 8 are frequently encountered in squamous cell carcinomas of the head and neck (HNSCC). These aberrations often affect the centromeric region, resulting in the formation of isochromosome i(8q) and whole arm translocations. Some tumors may display structural rearrangements of 8p23. To characterize further the localization of the breakpoints in such rearrangements, 12 HNSCC known to carry pericentromeric rearrangements of chromosome 8 and 8p23 abnormalities were investigated with fluorescence in situ hybridization (FISH) by the use of 15 YAC clones spanning 8p23 and 8p11 to 8q11. FISH confirmed that all, except one, aberrations cytogenetically interpreted to be i(8q) were true, monocentric i(8q).... (More)

Structural rearrangements of chromosome 8 are frequently encountered in squamous cell carcinomas of the head and neck (HNSCC). These aberrations often affect the centromeric region, resulting in the formation of isochromosome i(8q) and whole arm translocations. Some tumors may display structural rearrangements of 8p23. To characterize further the localization of the breakpoints in such rearrangements, 12 HNSCC known to carry pericentromeric rearrangements of chromosome 8 and 8p23 abnormalities were investigated with fluorescence in situ hybridization (FISH) by the use of 15 YAC clones spanning 8p23 and 8p11 to 8q11. FISH confirmed that all, except one, aberrations cytogenetically interpreted to be i(8q) were true, monocentric i(8q). Similarly, all whole-arm translocations appeared as centric fusions. It could thus be concluded that the essential outcome of these rearrangements is genomic imbalances and not rearrangement of genes in the pericentromeric region. By the use of five YAC clones mapping to 8p23, different breakpoints at the molecular level were disclosed in cases with cytogenetically identical 8p23 rearrangements. An evaluation of the genomic imbalances detected in the present series revealed that overrepresentation of 8q material was present in 11 of the 12 tumors. The most commonly gained segment was 8q22 approximately qter, found in all cases with 8q overrepresentation. Loss of parts of or the entire 8p was seen in 10 tumors. The smallest overlapping deleted region was localized to the subtelomeric region of 8p.

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keywords
Aged, Aged, 80 and over, Carcinoma, Squamous Cell, Chromosome Aberrations, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 8, Cytogenetic Analysis, Female, Head and Neck Neoplasms, Humans, In Situ Hybridization, Fluorescence, Isochromosomes, Male, Middle Aged, Models, Genetic, Mutation, Journal Article, Research Support, Non-U.S. Gov't
in
Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
130
issue
2
pages
7 pages
publisher
Elsevier
external identifiers
  • pmid:11675131
  • scopus:0035886410
ISSN
0165-4608
DOI
10.1016/S0165-4608(01)00476-9
language
English
LU publication?
yes
id
3f90de0b-0be8-4fed-9078-990b5f44a902 (old id 1120426)
date added to LUP
2008-07-01 08:44:32
date last changed
2018-05-29 11:55:20
@article{3f90de0b-0be8-4fed-9078-990b5f44a902,
  abstract     = {<p>Structural rearrangements of chromosome 8 are frequently encountered in squamous cell carcinomas of the head and neck (HNSCC). These aberrations often affect the centromeric region, resulting in the formation of isochromosome i(8q) and whole arm translocations. Some tumors may display structural rearrangements of 8p23. To characterize further the localization of the breakpoints in such rearrangements, 12 HNSCC known to carry pericentromeric rearrangements of chromosome 8 and 8p23 abnormalities were investigated with fluorescence in situ hybridization (FISH) by the use of 15 YAC clones spanning 8p23 and 8p11 to 8q11. FISH confirmed that all, except one, aberrations cytogenetically interpreted to be i(8q) were true, monocentric i(8q). Similarly, all whole-arm translocations appeared as centric fusions. It could thus be concluded that the essential outcome of these rearrangements is genomic imbalances and not rearrangement of genes in the pericentromeric region. By the use of five YAC clones mapping to 8p23, different breakpoints at the molecular level were disclosed in cases with cytogenetically identical 8p23 rearrangements. An evaluation of the genomic imbalances detected in the present series revealed that overrepresentation of 8q material was present in 11 of the 12 tumors. The most commonly gained segment was 8q22 approximately qter, found in all cases with 8q overrepresentation. Loss of parts of or the entire 8p was seen in 10 tumors. The smallest overlapping deleted region was localized to the subtelomeric region of 8p.</p>},
  author       = {Jin, Y and Jin, C and Wennerberg, J and Höglund, M and Mertens, F},
  issn         = {0165-4608},
  keyword      = {Aged,Aged, 80 and over,Carcinoma, Squamous Cell,Chromosome Aberrations,Chromosomes, Artificial, Yeast,Chromosomes, Human, Pair 8,Cytogenetic Analysis,Female,Head and Neck Neoplasms,Humans,In Situ Hybridization, Fluorescence,Isochromosomes,Male,Middle Aged,Models, Genetic,Mutation,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  month        = {10},
  number       = {2},
  pages        = {111--117},
  publisher    = {Elsevier},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {Cytogenetic and fluorescence in situ hybridization characterization of chromosome 8 rearrangements in head and neck squamous cell carcinomas},
  url          = {http://dx.doi.org/10.1016/S0165-4608(01)00476-9},
  volume       = {130},
  year         = {2001},
}