Reference : High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth m...
Scientific journals : Article
Human health sciences : Surgery
High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection
Oliva, E. [> > > >]
de Leval, Laurence mailto [Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques >]
Soslow, R. A. [> > > >]
Herens, Christian mailto [Centre Hospitalier Universitaire de Liège - CHU > > PLAN COS >]
American Journal of Surgical Pathology
Lippincott Williams & Wilkins
Yes (verified by ORBi)
[en] endometrial stromal tumors ; smooth muscle differentiation ; JAZF1-JJAZ1 fusion gene ; FISH ; differential diagnosis
[en] The most common cytogenetic alteration observed in low-grade endometrial stromal tumors (EST) is the t(7;17)(p15.-q21) translocation, resulting in the fusion of the JAZF1 and JJAZ1 genes. By reverse-transcription polymerase chain reaction, the translocation has been detected overall in one-third of ESTs. but only rarely in its variants. The purpose of this study was to develop a fluorescence in situ hybridization assay for detection of this translocation using archival paraffin-embedded samples of ESTs with smooth muscle differentiation and to assess the nature of the smooth Muscle component of these tumors. Representative paraffin blocks of 9 endometrial stromal nodules and I low-grade endometrial stromal sarcoma were collected for the study. In I case, the block selected also contained areas of sex cordlike differentiation. A fluorescence in situ hybridization probe set was designed to detect the t(7;17)(p15;q12) on tissue sections. Six Out of 10 collected ESTs were assessable. Fusion signals were detected in 3 out of 6 cases (50%) in both the conventional endometrial stromal and the smooth muscle components of the tumors. The tumor sample with sex cordlike differentiation harbored the fusion signal in all the 3 components. Out-results Support the contention that the endometrial stromal and smooth muscle components of these tumors have the same ori.-in, either from a common precursor cell with pluripotential differentiation or from endometrial stromal cells that have undergone smooth muscle metaplasia. Our results indicate that the detection of this chromosomal abnormality can be used to diagnose ESTs with smooth muscle differentiation when the smooth muscle component is predominant.

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