National Key Discipline of Pediatrics, Ministry of Education, Department of Urology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
Chin Med J (Engl). 2012 Mar;125(5):932-6.
Primary Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) of urogenital tract is a rare condition with non-specific clinical presentations, which can make it difficult to diagnose. In this study, we summarize the clinical presentation, pathological features, therapeutic strategies, and prognosis of ES/PNET.
Clinical information on two cases of ES/PNET in the penis and ureter was analyzed, and relevant literature was reviewed.
ES/PNET was confirmed pathologically, immunohistochemically and via molecular biology techniques in the penis (n=1) and ureter (n=1). In one case, a tumor was found at the base of penis, which had invaded the corpus cavernosum, and resulted in a massive enlargement of the penis. This tumor was initially diagnosed as an endocrine disorder. However, a confirmed diagnosis was made 11 months later when massive metastases in both lungs were noted. A tumor biopsy was performed to confirm the diagnosis, and chemotherapy with a CAV (cyclophosphamide+doxorubicin+vincristine)+IE (ifosfamide+etoposide) regimen for 9 months was prescribed. In the second case, a child was admitted due to abdominal pain and a hydroureter in the right kidney, as determined by ultrasonography. A tumor was found in the right ureter at the level of iliac vessels. Removal of the tumor and ureteral anastomosis were performed, and chemotherapy with CAV+IE for 8 months were prescribed. Both patients are currently being followed-up closely.
ES/PNET is a highly malignant tumor and has poor prognosis. Pre-operative diagnosis of ES/PNET of urogenital tract is difficult and largely depends on pathology, immunohistochemistry, and, if applicable, molecular biology. Comprehensive therapy may include surgery, chemotherapy and radiotherapy.
泌尿生殖道原始神经外胚层肿瘤/尤文肉瘤(ES/PNET)是一种罕见疾病,临床表现不具特异性,这使得诊断较为困难。本研究总结了 ES/PNET 的临床表现、病理特征、治疗策略和预后。
分析了阴茎和输尿管 2 例 ES/PNET 患者的临床资料,并复习了相关文献。
阴茎(n=1)和输尿管(n=1)均经病理、免疫组织化学和分子生物学技术证实为 ES/PNET。1 例患者阴茎根部有一肿瘤,侵犯了海绵体,导致阴茎巨大肿大。最初诊断为内分泌紊乱,但 11 个月后发现双肺大量转移,确诊为该肿瘤。行肿瘤活检,给予 CAV(环磷酰胺+多柔比星+长春新碱)+IE(异环磷酰胺+依托泊苷)方案化疗 9 个月。另 1 例患儿因腹痛和右肾积水行超声检查,发现右输尿管髂血管水平有一肿瘤。行肿瘤切除术和输尿管吻合术,给予 CAV+IE 方案化疗 8 个月。目前两位患者均在密切随访中。
ES/PNET 是一种高度恶性肿瘤,预后较差。泌尿生殖道 ES/PNET 的术前诊断较为困难,主要依赖于病理学、免疫组织化学,必要时还需行分子生物学检查。综合治疗可能包括手术、化疗和放疗。