title: Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.
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.
authors.affiliation: Division of Molecular Oncology, Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
authors.forename: J I
authors.initials: JI
authors.lastname: Koontz
authors.forename: A L
authors.initials: AL
authors.lastname: Soreng
authors.forename: M
authors.initials: M
authors.lastname: Nucci
authors.forename: F C
authors.initials: FC
authors.lastname: Kuo
authors.forename: P
authors.initials: P
authors.lastname: Pauwels
authors.forename: H
authors.initials: H
authors.lastname: van Den Berghe
authors.forename: P
authors.initials: P
authors.lastname: Dal Cin
authors.forename: J A
authors.initials: JA
authors.lastname: Fletcher
authors.forename: J
authors.initials: J
authors.lastname: Sklar
mesh_terms: D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D015139:Blotting, Southern / Q000379:methods; D022202:Chromosomes, Artificial, Bacterial; D018244:Chromosomes, Artificial, Yeast; D002886:Chromosomes, Human, Pair 17; D002897:Chromosomes, Human, Pair 7; D056970:Co-Repressor Proteins; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D018203:Sarcoma, Endometrial Stromal / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: D056970:Co-Repressor Proteins; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C430460:JAZF1 protein, human; D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors