PMID- 22411068
OWN - NLM
STAT- MEDLINE
DCOM- 20120711
LR  - 20230216
IS  - 1530-0307 (Electronic)
IS  - 0023-6837 (Linking)
VI  - 92
IP  - 5
DP  - 2012 May
TI  - FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic 
      fibroblastoma.
PG  - 735-43
LID - 10.1038/labinvest.2012.46 [doi]
AB  - Desmoplastic fibroblastoma (DF) is a benign fibroblastic/myofibroblastic tumor. 
      Cytogenetic analyses have revealed consistent rearrangement of chromosome band 
      11q12, strongly suggesting that this region harbors a gene of pathogenetic 
      importance. To identify the target gene of the 11q12 rearrangements, we analyzed 
      six cases diagnosed as DF using chromosome banding, fluorescence in situ 
      hybridization (FISH), single-nucleotide polymorphism array and gene expression 
      approaches. Different structural rearrangements involving 11q12 were found in 
      five of the six cases. Metaphase FISH analyses in two of them mapped the 11q12 
      breakpoints to an ~20-kb region, harboring FOSL1. Global gene expression 
      profiling followed by quantitative real-time PCR showed that FOSL1 was expressed 
      at higher levels in DF with 11q12 rearrangements than in desmoid-type 
      fibromatoses. Furthermore, FOSL1 was not upregulated in the single case of DF 
      that did not show cytogenetic involvement of 11q12; instead this tumor was found 
      to display a hemizygous loss on 5q, including the APC (adenomatous polyposis 
      coli) locus, raising the possibility that it actually was a misdiagnosed Gardner 
      fibroma. 5'RACE-PCR in two 11q12-positive DF did not identify any fusion 
      transcripts. Thus, in agreement with the finding at chromosome banding analysis 
      that varying translocation partners are involved in the 11q12 rearrangement, the 
      molecular data suggest that the functional outcome of the 11q12 rearrangements is 
      deregulated expression of FOSL1.
FAU - Macchia, Gemma
AU  - Macchia G
AD  - Department of Clinical Genetics, University and Regional Laboratories, Skane 
      University Hospital, Lund University, Lund, Sweden. 
      gemmamacchia@biologia.uniba.it
FAU - Trombetta, Domenico
AU  - Trombetta D
FAU - Moller, Emely
AU  - Moller E
FAU - Mertens, Fredrik
AU  - Mertens F
FAU - Storlazzi, Clelia T
AU  - Storlazzi CT
FAU - Debiec-Rychter, Maria
AU  - Debiec-Rychter M
FAU - Sciot, Raf
AU  - Sciot R
FAU - Nord, Karolin H
AU  - Nord KH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120312
PL  - United States
TA  - Lab Invest
JT  - Laboratory investigation; a journal of technical methods and pathology
JID - 0376617
RN  - 0 (Adenomatous Polyposis Coli Protein)
RN  - 0 (CTNNB1 protein, human)
RN  - 0 (Proto-Oncogene Proteins c-fos)
RN  - 0 (beta Catenin)
RN  - 0 (fos-related antigen 1)
SB  - IM
MH  - Adenomatous Polyposis Coli Protein/*genetics
MH  - Adult
MH  - Aged
MH  - Chromosome Breakage
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 5
MH  - Cytogenetic Analysis/methods
MH  - Diagnosis, Differential
MH  - Female
MH  - Gardner Syndrome/genetics/metabolism/pathology
MH  - Gene Expression Profiling/methods
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Muscle Tissue/*genetics/pathology
MH  - Oligonucleotide Array Sequence Analysis/methods
MH  - Proto-Oncogene Proteins c-fos/*genetics
MH  - Translocation, Genetic
MH  - beta Catenin/*genetics
EDAT- 2012/03/14 06:00
MHDA- 2012/07/12 06:00
CRDT- 2012/03/14 06:00
PHST- 2012/03/14 06:00 [entrez]
PHST- 2012/03/14 06:00 [pubmed]
PHST- 2012/07/12 06:00 [medline]
AID - S0023-6837(22)02636-8 [pii]
AID - 10.1038/labinvest.2012.46 [doi]
PST - ppublish
SO  - Lab Invest. 2012 May;92(5):735-43. doi: 10.1038/labinvest.2012.46. Epub 2012 Mar 
      12.