Golhar Ankush, Ray Samrat, Haugk Beate, Singhvi Suresh Kumar
Surgical Gastroenterology and Liver Transplant, Sir Ganga Ram Hospital, New Delhi, India.
Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
BMJ Case Rep. 2017 May 4;2017:bcr-2017-219219. doi: 10.1136/bcr-2017-219219.
Ewing's sarcoma is a highly aggressive malignant tumour most commonly affecting long bones in children and adolescents. It is part of the Ewing's sarcoma family of tumours (ESFTs) that also include peripheral primitive neuroectodermal tumour and Askin's tumours. ESFTs share common cytogenetic aberrations, antigenic profiles and proto-oncogene expression with an overall similar clinical course. In 99% of ESFTs, genetic translocation with molecular fusion involves the EWSR1 gene on 22q12. Approximately 30% of ESFTs are extraosseous, most commonly occurring in the soft tissues of extremities, pelvis, retroperitoneum and chest wall. Primary presentation in solid organs is very rare but has been described in multiple sites including the pancreas. Accurate diagnosis of a Ewing's sarcoma in a solid organ is critical in facilitating correct treatment. We report the case of a 17-year-old girl with cytogenetically confirmed primary pancreatic Ewing's sarcoma and provide a brief review of the published literature.
尤因肉瘤是一种侵袭性很强的恶性肿瘤,最常影响儿童和青少年的长骨。它是尤因肉瘤肿瘤家族(ESFTs)的一部分,该家族还包括外周原始神经外胚层肿瘤和阿斯金瘤。ESFTs具有共同的细胞遗传学异常、抗原谱和原癌基因表达,临床病程总体相似。在99%的ESFTs中,伴有分子融合的基因易位涉及22号染色体长臂12区的EWSR1基因。约30%的ESFTs为骨外肿瘤,最常见于四肢、骨盆、腹膜后和胸壁的软组织。实体器官的原发性表现非常罕见,但已在包括胰腺在内的多个部位有过描述。准确诊断实体器官中的尤因肉瘤对于正确治疗至关重要。我们报告了一例经细胞遗传学证实的原发性胰腺尤因肉瘤的17岁女孩病例,并对已发表的文献进行简要综述。