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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 Cytogenetics1979-01-01+01:002011-01-01+01:00 185(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.

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organization
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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 Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
185
issue
2
pages
4 pages
publisher
Elsevier
external identifiers
  • WOS:000259167700002
  • PMID:18722875
  • Scopus:49649125809
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2008.04.020http://dx.doi.org/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
2008-09-03 12:14:32
date last changed
2016-11-17 10:55:40
@misc{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},
  keyword      = {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    = {ARRAY(0x92d4758)},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera},
  url          = {http://dx.doi.org/10.1016/j.cancergencyto.2008.04.020http://dx.doi.org/10.1016/j.cancergencyto.2008.04.020},
  volume       = {185},
  year         = {2008},
}