Detection of the JAZF1-JJAZ1 Fusion Transcript in Endometrial Biopsy Material Several Years Prior to the Clinical Presentation of Endometrial Stromal Sarcoma
Sten Stemme, Mehran Ghaderi, Roxane Vaziri, Joseph W Carlson. Karolinska University Hospital, Stockholm, Sweden
Background: The JAZF1-JJAZ1 fusion transcript has been identified in approximately 80% of endometrial stromal nodules, 60% of endometrial stromal sarcomas and 20% of undifferentiated uterine sarcomas. Because the malignancy of these sarcomas is believed to increase over time, with a subset of stromal nodules developing into stromal sarcomas, and a subset of these tumors developing into undifferentiated stromal sarcomas, early detection and diagnosis is crucial. Our hypothesis is that the fusion transcript may be present and identifiable in endometrial biopsy material years prior to the clinical presentation of a uterine mass.
Design: Formalin fixed paraffin embedded tumor material was retrospectively identified in the archives of the Karolinska University Hospital. Cases were included in this study if the JAZF1-JJAZ1 fusion transcript was identified in the endometrial stromal tumor (EST) material and there was one or more prehysterectomy endometrial biopsy available for analysis. The fusion transcript was detected through real-time PCR.
Results: Two patients were identified where the fusion transcript could be detected in the EST (diagnosed at the time of hysterectomy) and where there was an earlier endometrial biopsy performed for another indication. H&E review of both biopsies revealed no histologic evidence for the presence of an EST. In one patient, an endometrial curettage was performed for dysfunctional uterine bleeding 5 years prior to the diagnosis of the EST. The JAZF1-JJAZ1 fusion transcript was identified in this biopsy material. In the second patient an endometrial curettage was performed 6 years prior to hysterectomy for an EST. No fusion transcript was identified in this material.
|Patient||Indication EMBx||H&E DxEMBx||Transcript Detected EMBx||Time between EMBx and EST Diagnosis||Transcript Detected EST|