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Unstable translocation (8;22) in a case of giant cell reparative granuloma.

Johnsson, Anna ; Collin, Anna LU ; Rydholm, Anders LU ; Domanski, Henryk LU ; Mertens, Fredrik LU and Mandahl, Nils LU (2007) In Cancer Genetics and Cytogenetics 177(1). p.59-63
Abstract
Giant cell reparative granuloma (GCRG) is an uncommon lesion most often affecting the jaw but also the small bones of the hands and feet. GCRG overlaps clinically and radiographically with other giant cell-rich tumors such as giant cell tumor of bone (GCTB) and aneurysmal bone cyst (ABC). In the only case of a cytogenetically investigated GCRG reported previously, a balanced translocation involving chromosomes 4 and X was found. In the present study, chromosome banding and fluorescence in situ hybridization (FISH) analyses were used to characterize the primary lesion and local recurrence of a GCRG in the thumb and skin biopsy of a 45-year-old woman. The skin showed a normal karyotype. Various forms of a dic(8;22) containing 8q, 22q, and... (More)
Giant cell reparative granuloma (GCRG) is an uncommon lesion most often affecting the jaw but also the small bones of the hands and feet. GCRG overlaps clinically and radiographically with other giant cell-rich tumors such as giant cell tumor of bone (GCTB) and aneurysmal bone cyst (ABC). In the only case of a cytogenetically investigated GCRG reported previously, a balanced translocation involving chromosomes 4 and X was found. In the present study, chromosome banding and fluorescence in situ hybridization (FISH) analyses were used to characterize the primary lesion and local recurrence of a GCRG in the thumb and skin biopsy of a 45-year-old woman. The skin showed a normal karyotype. Various forms of a dic(8;22) containing 8q, 22q, and smaller or larger parts of 8p were found in both GCRG samples. In addition, ring chromosomes, most often composed of chromosome I I material, and telomeric associations were found. The latter aberrations were more frequent in the primary lesion. Normal FISH signals were seen when using probes capable of detecting USP6 rearrangernents. The variant 8;22 aberrations were interpreted to originate from an unstable dic(8;22)(p23;p11) that gradually evolved into a functionally monocentric chromosome in the dominating subset of cell populations. We conclude that our case of GCRG shared several cytogenetic characteristics with GCTB but none with ABC. (c) 2007 Elsevier Inc. All rights reserved. (Less)
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author
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cancer Genetics and Cytogenetics
volume
177
issue
1
pages
59 - 63
publisher
Elsevier
external identifiers
  • scopus:34547682282
  • wos:000249038900010
  • pmid:17693193
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2007.04.017
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), Department of Orthopaedics (Lund) (013028000), Pathology, (Lund) (013030000)
id
32363b80-1058-4450-b9c1-efa48ef94ec0 (old id 606937)
date added to LUP
2016-04-01 15:30:00
date last changed
2022-03-22 04:44:47
@article{32363b80-1058-4450-b9c1-efa48ef94ec0,
  abstract     = {{Giant cell reparative granuloma (GCRG) is an uncommon lesion most often affecting the jaw but also the small bones of the hands and feet. GCRG overlaps clinically and radiographically with other giant cell-rich tumors such as giant cell tumor of bone (GCTB) and aneurysmal bone cyst (ABC). In the only case of a cytogenetically investigated GCRG reported previously, a balanced translocation involving chromosomes 4 and X was found. In the present study, chromosome banding and fluorescence in situ hybridization (FISH) analyses were used to characterize the primary lesion and local recurrence of a GCRG in the thumb and skin biopsy of a 45-year-old woman. The skin showed a normal karyotype. Various forms of a dic(8;22) containing 8q, 22q, and smaller or larger parts of 8p were found in both GCRG samples. In addition, ring chromosomes, most often composed of chromosome I I material, and telomeric associations were found. The latter aberrations were more frequent in the primary lesion. Normal FISH signals were seen when using probes capable of detecting USP6 rearrangernents. The variant 8;22 aberrations were interpreted to originate from an unstable dic(8;22)(p23;p11) that gradually evolved into a functionally monocentric chromosome in the dominating subset of cell populations. We conclude that our case of GCRG shared several cytogenetic characteristics with GCTB but none with ABC. (c) 2007 Elsevier Inc. All rights reserved.}},
  author       = {{Johnsson, Anna and Collin, Anna and Rydholm, Anders and Domanski, Henryk and Mertens, Fredrik and Mandahl, Nils}},
  issn         = {{0165-4608}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{59--63}},
  publisher    = {{Elsevier}},
  series       = {{Cancer Genetics and Cytogenetics}},
  title        = {{Unstable translocation (8;22) in a case of giant cell reparative granuloma.}},
  url          = {{http://dx.doi.org/10.1016/j.cancergencyto.2007.04.017}},
  doi          = {{10.1016/j.cancergencyto.2007.04.017}},
  volume       = {{177}},
  year         = {{2007}},
}