Department of Pathology, Hospital de S. João, E.P.E., and Department of Pathology, Medical Faculty, University of Porto, Alameda Professor Hernâni Monteiro, 4202-451, Porto, Portugal.
Med Oncol. 2011 Dec;28(4):1488-94. doi: 10.1007/s12032-010-9579-z. Epub 2010 May 29.
Uterine primitive neuroectodermal tumours are extremely rare tumours. They can occur in pure form or combined with another component including endometrioid adenocarcinoma. We aimed to review the clinical impact of neuroectodermal phenotype in uterine tumours, after we recently diagnosed one such case. A 58-year-old female presented with irregular vaginal bleeding. Ultrasonography and CT showed the presence of a large uterine mass with irregular contours. At laparotomy it was found to extend to the right ureter, sigmoid colon and some small intestinal loops. Microscopic examination revealed that the tumour consisted of an endometrioid adenocarcinoma component merging with an extensive neuroectodermal component. No EWSR1 or FUS rearrangement was found in the two tumour components. The patient received two courses of chemotherapy but died 11 months after the initial diagnosis. We reviewed the morphological and molecular criteria for the diagnosis of uterine primitive neuroectodermal tumours published in the literature. We conclude that regardless of the detection of an EWSR1 rearrangement, the presence of a neuroectodermal differentiation component in these rare uterine tumours is a marker of aggressive behaviour, and its presence should be highlighted in the diagnosis.
子宫原始神经外胚层肿瘤是非常罕见的肿瘤。它们可以以纯形式存在，也可以与另一种成分（包括子宫内膜样腺癌）结合。最近我们诊断了这样一个病例后，我们旨在回顾神经外胚层表型在子宫肿瘤中的临床影响。一位 58 岁女性因不规则阴道出血就诊。超声和 CT 显示子宫内有一个大肿块，轮廓不规则。剖腹探查发现肿瘤延伸至右侧输尿管、乙状结肠和一些小肠环。显微镜检查显示肿瘤由子宫内膜样腺癌成分与广泛的神经外胚层成分融合而成。在两个肿瘤成分中均未发现 EWSR1 或 FUS 重排。患者接受了两个疗程的化疗，但在最初诊断后 11 个月死亡。我们回顾了文献中发表的用于诊断子宫原始神经外胚层肿瘤的形态学和分子标准。我们得出结论，无论是否检测到 EWSR1 重排，这些罕见的子宫肿瘤中存在神经外胚层分化成分是侵袭性行为的标志物，在诊断中应突出其存在。
