Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera

Panagopoulos, Ioannis LU ; Mertens, Fredrik LU and Griffin, Constance A (2008) In Cancer Genetics and Cytogenetics 185(2). p.74-77
Abstract

Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7 is involved in most aberrations. A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement. In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. In the fusion transcript, exon 3 of JAZF1 was fused with exon 2 of... (More)

Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7 is involved in most aberrations. A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement. In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. In the fusion transcript, exon 3 of JAZF1 was fused with exon 2 of PHF1. At the junction, there was an insertion of 26 nucleotides, originating from intron 3 of JAZF1, thus maintaining an open reading frame of the chimeric transcript. The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion.

(Less)
Please use this url to cite or link to this publication:
author
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Base Sequence, DNA Primers, DNA-Binding Proteins, Endometrial Neoplasms, Female, Humans, Karyotyping, Neoplasm Proteins, Recombinant Fusion Proteins, Reverse Transcriptase Polymerase Chain Reaction, Sarcoma, Stromal Cells, Transcription Factors, Journal Article, Research Support, Non-U.S. Gov't
in
Cancer Genetics and Cytogenetics
volume
185
issue
2
pages
4 pages
publisher
Elsevier
external identifiers
  • wos:000259167700002
  • pmid:18722875
  • scopus:49649125809
  • pmid:18722875
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2008.04.020
language
English
LU publication?
yes
id
47650a4e-72ad-4d30-ab13-e13156f02332 (old id 1222975)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18722875?dopt=Abstract
date added to LUP
2016-04-04 09:28:46
date last changed
2022-04-08 03:14:45
@article{47650a4e-72ad-4d30-ab13-e13156f02332,
  abstract     = {{<p>Endometrial stromal sarcomas (ESS) are rare malignancies, accounting for less than 10% of uterine sarcomas. Apart from the chromosomal rearrangement t(7;17)(p15;q21), which leads to the JAZF1/SUZ12 chimera, cytogenetic studies have shown that the chromosome band 6p21 is often rearranged in ESS. The translocation partners involved in the 6p21 rearrangements differ among the tumors, but chromosome 7 is involved in most aberrations. A JAZF1/PHF1 fusion gene was recently found in two tumors showing an exchange between 6p and 7p rearrangement. In the present study, we show that a low-grade ESS cell line carrying a der(7)t(6;7)(p21;p22) also harbors the a JAZF1/PHF1 fusion. In the fusion transcript, exon 3 of JAZF1 was fused with exon 2 of PHF1. At the junction, there was an insertion of 26 nucleotides, originating from intron 3 of JAZF1, thus maintaining an open reading frame of the chimeric transcript. The predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein. The present cell line constitutes an excellent model for further studies on the impact of the JAZF1/PHF1 fusion.</p>}},
  author       = {{Panagopoulos, Ioannis and Mertens, Fredrik and Griffin, Constance A}},
  issn         = {{0165-4608}},
  keywords     = {{Base Sequence; DNA Primers; DNA-Binding Proteins; Endometrial Neoplasms; Female; Humans; Karyotyping; Neoplasm Proteins; Recombinant Fusion Proteins; Reverse Transcriptase Polymerase Chain Reaction; Sarcoma; Stromal Cells; Transcription Factors; Journal Article; Research Support, Non-U.S. Gov't}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{74--77}},
  publisher    = {{Elsevier}},
  series       = {{Cancer Genetics and Cytogenetics}},
  title        = {{An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera}},
  url          = {{http://dx.doi.org/10.1016/j.cancergencyto.2008.04.020}},
  doi          = {{10.1016/j.cancergencyto.2008.04.020}},
  volume       = {{185}},
  year         = {{2008}},
}