PMID- 22796436
OWN - NLM
STAT- MEDLINE
DCOM- 20121108
LR  - 20220331
IS  - 1525-2191 (Electronic)
IS  - 0002-9440 (Linking)
VI  - 181
IP  - 3
DP  - 2012 Sep
TI  - Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors.
PG  - 1069-77
LID - 10.1016/j.ajpath.2012.05.030 [doi]
AB  - Ossifying fibromyxoid tumor (OFMT) is a soft tissue tumor of unknown lineage. 
      Although most cases are histologically and clinically benign, some show malignant 
      morphological features and local recurrences are not uncommon; a few may even 
      metastasize. In the present study, cytogenetic analysis identified different 
      structural rearrangements of chromosome band 6p21 in tumor cells from three cases 
      of OFMT, including one with typical, one with atypical, and one with malignant 
      morphological features. Mapping of the 6p21 breakpoint by fluorescence in situ 
      hybridization (FISH) indicated that the PHF1 gene was rearranged in all three 
      cases. Further FISH, 5'-rapid amplification of cDNA ends, and RT-PCR analyses 
      disclosed an EP400/PHF1 fusion transcript in one of the cases. Interphase FISH on 
      tumor sections from 13 additional cases of OFMT showed rearrangement of the PHF1 
      locus in four of four typical, two of three atypical, and one of six malignant 
      lesions. Thus, the PHF1 gene, previously shown to be the 3'-partner of fusion 
      genes in endometrial stromal tumors, is also recurrently involved in the 
      pathogenesis of OFMTs, irrespective of whether they are diagnosed as typical, 
      atypical, or malignant lesions. The PHF1 protein interacts with the 
      polycomb-repressive complex 2 (PRC2), which, in turn, regulates the expression of 
      a variety of developmental genes. Thus, the results indicate that deregulation of 
      PRC2 target genes is crucial for OFMT development.
CI  - Copyright (c) 2012 American Society for Investigative Pathology. Published by 
      Elsevier Inc. All rights reserved.
FAU - Gebre-Medhin, Samuel
AU  - Gebre-Medhin S
AD  - Department of Clinical Genetics, University and Regional Laboratories, Lund 
      University, Sweden. samuel.gebre-medhin@med.lu.se
FAU - Nord, Karolin H
AU  - Nord KH
FAU - Moller, Emely
AU  - Moller E
FAU - Mandahl, Nils
AU  - Mandahl N
FAU - Magnusson, Linda
AU  - Magnusson L
FAU - Nilsson, Jenny
AU  - Nilsson J
FAU - Jo, Vickie Y
AU  - Jo VY
FAU - Vult von Steyern, Fredrik
AU  - Vult von Steyern F
FAU - Brosjo, Otte
AU  - Brosjo O
FAU - Larsson, Olle
AU  - Larsson O
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Sciot, Raf
AU  - Sciot R
FAU - Debiec-Rychter, Maria
AU  - Debiec-Rychter M
FAU - Fletcher, Christopher D M
AU  - Fletcher CD
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120713
PL  - United States
TA  - Am J Pathol
JT  - The American journal of pathology
JID - 0370502
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (PHF1 protein, human)
RN  - 0 (Polycomb-Group Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Bone Neoplasms/*genetics/pathology
MH  - Cell Shape
MH  - Chromosome Breakage
MH  - Chromosomes, Human/genetics
MH  - Cytogenetic Analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Fibroma, Ossifying/*genetics/pathology
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Metaphase
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Paraffin Embedding
MH  - Polycomb-Group Proteins
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Recurrence
MH  - Transcription Factors/*genetics
EDAT- 2012/07/17 06:00
MHDA- 2012/11/09 06:00
CRDT- 2012/07/17 06:00
PHST- 2012/03/29 00:00 [received]
PHST- 2012/05/21 00:00 [revised]
PHST- 2012/05/30 00:00 [accepted]
PHST- 2012/07/17 06:00 [entrez]
PHST- 2012/07/17 06:00 [pubmed]
PHST- 2012/11/09 06:00 [medline]
AID - S0002-9440(12)00435-X [pii]
AID - 10.1016/j.ajpath.2012.05.030 [doi]
PST - ppublish
SO  - Am J Pathol. 2012 Sep;181(3):1069-77. doi: 10.1016/j.ajpath.2012.05.030. Epub 
      2012 Jul 13.