PMID- 17370328
OWN - NLM
STAT- MEDLINE
DCOM- 20070608
LR  - 20070509
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 46
IP  - 6
DP  - 2007 Jun
TI  - Assessment of the clinical and molecular impact of different cytogenetic 
      subgroups in a series of 272 lipomas with abnormal karyotype.
PG  - 594-606
AB  - Conventional lipomas harbor karyotypic changes that could be subdivided into 
      four, usually mutually exclusive, categories: rearrangement, in particular 
      through translocations, of chromosome bands 12q13-15, resulting in deregulation 
      of the HMGA2 gene, loss of material from or rearrangement of chromosome 13, 
      supernumerary ring or giant marker chromosomes, and aberrations of chromosome 
      band 6p21. In the present study, 272 conventional lipomas, two-thirds of them 
      deep-seated, with acquired clonal chromosome changes were assessed with regard to 
      karyotypic and clinical features. A nonrandom distribution of breakpoints and 
      imbalances could be confirmed, with 83% of the cases harboring one or more of the 
      previously known cytogenetic hallmarks. Correlation with clinical features 
      revealed that lipomas with rings/giant markers were larger, occurred in older 
      patients, were more often deep-seated, and seemed to have an increased tendency 
      to recur locally, compared with tumors with other chromosome aberrations. The 
      possible involvement of the HMGA2 gene in cases that did not show any of the 
      characteristic cytogenetic changes was further evaluated by locus-specific 
      metaphase fluorescence in situ hybridization (FISH) and RT-PCR, revealing 
      infrequent cryptic disruption of the gene but abundant expression of full length 
      or truncated transcripts. By FISH, we could also show that breakpoints in bands 
      10q22-23 do not affect the MYST4 gene, whereas breakpoints in 6p21 or 8q11-12 
      occasionally target the HMGA1 or PLAG1 genes, respectively, also in conventional 
      lipomas.
FAU - Bartuma, Hammurabi
AU  - Bartuma H
AD  - Department of Clinical Genetics, University Hospital, Lund, Sweden.
FAU - Hallor, Karolin H
AU  - Hallor KH
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
FAU - Collin, Anna
AU  - Collin A
FAU - Rydholm, Anders
AU  - Rydholm A
FAU - Gustafson, Pelle
AU  - Gustafson P
FAU - Bauer, Henrik C F
AU  - Bauer HC
FAU - Brosjo, Otte
AU  - Brosjo O
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Mandahl, Nils
AU  - Mandahl N
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (HMGA2 Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Cohort Studies
MH  - Female
MH  - HMGA2 Protein/*genetics/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping/*methods
MH  - Lipoma/*genetics
MH  - Male
MH  - Middle Aged
MH  - Neoplasms/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Soft Tissue Neoplasms/*genetics
EDAT- 2007/03/21 09:00
MHDA- 2007/06/09 09:00
CRDT- 2007/03/21 09:00
PHST- 2007/03/21 09:00 [pubmed]
PHST- 2007/06/09 09:00 [medline]
PHST- 2007/03/21 09:00 [entrez]
AID - 10.1002/gcc.20445 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2007 Jun;46(6):594-606. doi: 10.1002/gcc.20445.