Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors
- Jason I. Koontz*†,
- A. Lee Soreng*†,
- Marisa Nucci†,
- Frank C. Kuo*†,
- Patrick Pauwels‡,
- Herman van den Berghe‡,
- Paola Dal Cin†,
- Jonathan A. Fletcher‡, and
- Jeffrey Sklar*†§
- *Division of Molecular Oncology, †Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115; and ‡Center for Human Genetics, University of Leuven, B-3000 Leuven, Belgium
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Communicated by Stanley J. Korsmeyer, Dana–Farber Cancer Institute, Boston, MA (received for review December 19, 2000)
Abstract
Endometrial stromal tumors are divided into three types: benign stromal nodules, endometrial stromal sarcomas, and undifferentiated endometrial sarcomas. A variety of cytogenetic abnormalities involving chromosome 7 have been reported in endometrial stromal sarcomas, including a recurrent t(7;17)(p15;q21). We have identified two zinc finger genes, which we have termed JAZF1 and JJAZ1, at the sites of the 7p15 and 17q21 breakpoints. Analyses of tumor RNA indicate that a JAZF1/JJAZ1 fusion is present in all types of endometrial stromal tumors; however, the fusion appears to be rarer among endometrial stromal sarcomas that would be considered high-grade according to certain classification schemes. These findings suggest that the less malignant endometrial stromal tumors may evolve toward more malignant types, but that some endometrial stromal sarcomas with relatively abundant mitotic activity may compose a biologically distinct group.
Footnotes
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↵§ To whom reprint requests should be addressed at: Harvard Medical School, Brigham and Women's Hospital, Department of Pathology, 75 Francis Street, Thorn 605, Boston MA 02115. E-mail: jsklar{at}rics.bwh.harvard.edu.
Abbreviations
- ESS,
- endometrial stromal sarcoma;
- YAC,
- yeast artificial chromosome;
- BAC,
- bacterial artificial chromosome;
- EST,
- expressed sequence tag;
- FISH,
- fluorescence in situ hybridization;
- RT-PCR,
- reverse transcription–PCR;
- STS,
- sequence-tagged site;
- I-PCR,
- inverse PCR
- Received December 19, 2000.
- Accepted March 16, 2001.
- Copyright © 2001, The National Academy of Sciences
