PMID- 17693193
OWN - NLM
STAT- MEDLINE
DCOM- 20071004
LR  - 20161124
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 177
IP  - 1
DP  - 2007 Aug
TI  - Unstable translocation (8;22) in a case of giant cell reparative granuloma.
PG  - 59-63
AB  - 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 11 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 rearrangements. 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.
FAU - Johnsson, Anna
AU  - Johnsson A
AD  - Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, 
      Sweden.
FAU - Collin, Anna
AU  - Collin A
FAU - Rydholm, Anders
AU  - Rydholm A
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Mertens, Fredrik
AU  - Mertens F
FAU - Mandahl, Nils
AU  - Mandahl N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Bone Diseases/diagnostic imaging/*genetics/pathology
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Female
MH  - Granuloma, Giant Cell/diagnostic imaging/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Middle Aged
MH  - Radiography
MH  - Translocation, Genetic/*genetics
EDAT- 2007/08/19 09:00
MHDA- 2007/10/05 09:00
CRDT- 2007/08/19 09:00
PHST- 2007/02/22 00:00 [received]
PHST- 2007/03/29 00:00 [revised]
PHST- 2007/04/04 00:00 [accepted]
PHST- 2007/08/19 09:00 [pubmed]
PHST- 2007/10/05 09:00 [medline]
PHST- 2007/08/19 09:00 [entrez]
AID - S0165-4608(07)00305-6 [pii]
AID - 10.1016/j.cancergencyto.2007.04.017 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2007 Aug;177(1):59-63. doi: 
      10.1016/j.cancergencyto.2007.04.017.