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伴有 t(10;17)易位和神经外胚层表型的低分化子宫肿瘤病例报告。

Case report of a poorly differentiated uterine tumour with t(10;17) translocation and neuroectodermal phenotype.

机构信息

Division 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.

出版信息

Anticancer Res. 2011 Jun;31(6):2367-71.

PMID:21737666
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.

摘要

伴有原始神经外胚层分化的子宫内膜间质肉瘤(ESS)是一种非常罕见的实体瘤。本文描述了一例发生于 51 岁女性的国际妇产科联合会(FIGO)2010 分期为 IIIc 期的病例。显微镜下提示为小圆蓝细胞肿瘤。细胞遗传学和多色荧光原位杂交(M-FISH)分析显示存在复杂核型,伴有 10;17(q22;p13)易位,提示为 ESS。基于 FISH 和 RT-PCR 融合转录本分析排除了外周尤文肉瘤。在进行手术分期后,患者接受了博来霉素+依托泊苷+顺铂联合化疗。本报告的基础是对组织病理学和遗传学发现的详细分析。

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