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Case report of a poorly differentiated uterine tumour with t(10;17) translocation and neuroectodermal phenotype
Frédéric Amant1, Thomas Tousseyn, Lieve Coenegrachts
1Division of Gynaecological Oncology, Department of Obstetrics and Gynaecology, University Hospitals Leuven, and Department of Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium. frederic.amant@uz.kuleuven.ac.be
Abstract:
Endometrial stromal sarcoma (ESS) with primitive neuroectodermal differentiation is a very uncommon entity. Such a case presenting as stage IIIc (International Federation of Gynaecology and Obstetrics (FIGO) 2010) disease in a 51-year-old female is described. Microscopy suggested a small blue round cell tumour. Cytogenetic and multicolour fluorescent in situ hybridisation (M-FISH) analysis revealed a complex karyotype with the presence of unbalanced t(10;17)(q22;p13) translocation, indicating ESS. Peripheral Ewing´s sarcoma was excluded based on FISH and RT-PCR fusion transcripts analysis. After surgical staging, the patient received bleomycin-etoposide-cisplatin combination chemotherapy. A detailed analysis of the histopathology and genetic findings forms the basis of this report.