Objective: To analyze the clinical features, diagnosis and differential diagnosis of peripheral primary neuroectodermal tumor(pPNET). Methods: The clinical data and diagnosis of a patient with rapid progressive pPNET in Shandong Provincial Hospital affiliated to Shandong University in January 2016 was reported and the related literatures were reviewed.The literature reviews were carried out respectively in CNKI, Wanfang and PubMed by July 2016 with "primitive neurotodermal tumour" and "PNET" being the search term from March 1994 to July 2016, including 13 articles. Results: A 41 year-old male patient was admitted to the hospital because of shortness of breath and occasional chest tightness, accompanied by general asthenia of about 15 d. Positron emission and transmission-CT of total trunk showed a mass in the right femoral osteoperiosteal mass, and multiple nodules in the left lung, lumps and nodules in the right lung, and right pleural thickening and effusion. Thoracoscopy was performed and pathology study confirmed the diagnosis of peripheral primary neuroectodermal tumor. The patient was given 2 courses of chemotherapy, but had rapid progressive worsening and died 1 month after PNET diagnosis. A total of 13 literatures of PNET were retrieved, all of which were case reports, and a total of 15 cases were reported.There were 9 male and 7 female patients, with a median age of 26 years.The symptoms had no specificity and most of them were solid masses in chest images, with or without pleural effusion. Eight cases were diagnosed by imaging guided percutaneous biopsy, 7 by operation and pathology, and 1 by medical thoracoscopy. Four cases underwent chemotherapy, and the survival time was less than 6 months. Twelve cases got surgical resection: 2 with surgical treatment, 7 with postoperative chemotherapy, 2 with postoperative radiotherapy and chemotherapy, 1 with postoperative chemotherapy and autologous bone marrow transplantation treatment, among which 11 patients completed follow-up. During follow-up, 3 cases died, and the survival time was 10 months, 3 years and 7 years, respectively. Conclusions: PNET is rare.Due to the lack of specificity of clinical manifestations, clinical diagnosis depends on biopsy. Early diagnosis and surgical resection are especially important for prognosis and quality of life.
目的： 分析外周原始神经外胚层瘤(peripheral primitive neurotodermal tumour, pPENT)的临床表现、诊断及鉴别诊断。 方法： 回顾性分析山东大学附属省立医院呼吸科2016年1月收治的1例外周原始神经外胚层瘤患者的临床资料并进行相关文献复习。以"外周原始神经外胚层瘤"、"peripheral primitive neurotodermal tumour"和"pPNET"为关键词检索1994年3月至2016年7月中国知网、万方数据库及PubMed数据库的相关文献，共获文献13篇，其中中文2篇，外文11篇。 结果： 患者男，41岁，因"胸闷、憋喘15 d"入院。临床症状为胸闷、憋喘。全身正电子发射计算机断层扫描示右侧股骨内侧肿块，门腔间隙、盆腔内增大淋巴结，右肺内肿块及结节，左肺内多发性结节，右侧胸膜增厚，脱氧葡萄糖代谢增高。行胸腔镜检查并行镜下壁层胸膜活检，病理诊断为pPNET。确诊后给予"依托泊苷＋奈达铂"方案治疗2个周期后，病情进展，于诊断后1个月死亡。文献复习检索到13篇pPNET相关文献，均为病例报道，共15例。包括本病例在内共16例，男9例，女7例，年龄11～67岁，中位年龄为26岁。临床表现无特异性，以胸痛、活动后胸闷、憋喘为主，影像学多为较大的软组织块影，伴或不伴有胸腔积液。8例通过影像引导下经皮肺穿刺活检确诊，7例经手术病理确诊，1例通过内科胸腔镜镜下活检确诊。4例仅行化疗，生存时间均<6个月；余12例手术切除病灶，其中2例仅行手术治疗，7例术后化疗，2例术后联合放化疗，1例行术后化疗及自体骨髓移植治疗。16例中11例完成了随访，随访期间3例死亡，生存时间分别为10个月、3年及7年。 结论： pPNET罕见，由于临床表现及影像学检查缺乏特异性，病理活检是确诊的金标准。早期诊断及手术切除对改善预后及生存质量尤为重要。.
Keywords: Case reports; Primitive neurotodermal tumour.