PMID- 15756437
OWN - NLM
STAT- MEDLINE
DCOM- 20050826
LR  - 20061115
IS  - 1021-335X (Print)
IS  - 1021-335X (Linking)
VI  - 13
IP  - 4
DP  - 2005 Apr
TI  - Atypical lipomatous tumor with rare structural rearrangements involving 
      chromosomes 8 and 12.
PG  - 649-52
AB  - Atypical lipomatous tumor (ALT), an intermediate malignant neoplasm of soft 
      tissues, is characterized by the presence of supernumerary ring and giant marker 
      chromosomes. These supernumerary chromosomes consistently contain amplified 
      12q-material in association with amplified segments from a variety of other 
      chromosomes. However, a few cases of ALT with other types of chromosomal 
      rearrangements have been reported earlier. We report on new types of structural 
      aberrations in a case of ALT. In a pseudodiploid karyotype, there were two 
      aberrant chromosomes, both consisting of alternating chromosome 8 and 12 
      sequences as shown by multicolor fluorescence in situ hybridization (FISH). The 
      complex rearrangement was not only the result of multiple breaks and reunions of 
      these chromosomes, but was also associated with a gain of chromosome 12 
      sequences. FISH analyses revealed that the number of MDM2 signals was slightly 
      elevated (median, 5). There were three intact copies of HMGA2 and one additional 
      copy of the 5' part of the gene. These findings are consistent with previous 
      reports that the ALT phenotype may be associated with a low or moderate level of 
      gene amplification, whereas truncation of HMGA2 has been observed in both ALTs 
      and benign lipomas. The aberrations in the present case were stable, although 
      rare cells with higher MDM2 copy numbers were detected. Whether ALTs with these 
      types of aberrations have a lower risk of tumor progression than ALTs with the 
      notoriously mitotically unstable ring and giant marker chromosomes remains to be 
      investigated.
FAU - Nilsson, Malin
AU  - Nilsson M
AD  - Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden. 
      malin.nilsson@klingen.lu.se
FAU - Domanski, Henryk
AU  - Domanski H
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  - Greece
TA  - Oncol Rep
JT  - Oncology reports
JID - 9422756
SB  - IM
MH  - Biopsy
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes/ultrastructure
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 8
MH  - Disease Progression
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Karyotyping
MH  - Lipoma/*genetics/*pathology
MH  - Middle Aged
MH  - Neoplasms, Adipose Tissue/*genetics/*pathology
MH  - Phenotype
EDAT- 2005/03/10 09:00
MHDA- 2005/08/27 09:00
CRDT- 2005/03/10 09:00
PHST- 2005/03/10 09:00 [pubmed]
PHST- 2005/08/27 09:00 [medline]
PHST- 2005/03/10 09:00 [entrez]
PST - ppublish
SO  - Oncol Rep. 2005 Apr;13(4):649-52.