输尿管恶性血管周上皮样细胞肿瘤1例并文献复习  

Malignant perivascular epithelioid cell tumor of the ureter:A case report and literature review

作　　者：张晓娇 奎翔 冯润林 孙成鹏 李汝懿 郭敏敏 华结 欧志燕 王燕[2] ZHANG Xiaojiao;KUI Xiang;FENG Runlin;SUN Chengpeng;LI Ruyi;GUO Minmin;HUA Jie;OU Zhiyan;WANG Yan(Department of Pathology,Yuxi Maternal and Child Health Care Hospital,Yuxi Yunnan 653100;Department of Pathology,Second Affiliated Hospital of Kunming Medical University,Kunming 650000,China)

机构地区：[1]玉溪市妇幼保健院病理科,云南玉溪653100 [2]昆明医科大学第二附属医院病理科,昆明650000

出　　处：《临床与病理杂志》2024年第8期1162-1169,共8页Journal of Clinical and Pathological Research

基　　金：昆明医科大学教育教学研究课题(2023-JY-Y-030);昆明医科大学第二附属医院“人才梯队建设”培养项目(RCTDXK-202301)。

摘　　要：1例输尿管恶性血管周上皮样细胞肿瘤(perivascular epithelioid cell tumor,PEComa)女性患者,因“右侧腰部不适持续15年、病情加重,检查发现右侧输尿管占位”就诊。腹部CT和磁共振检查均明确显示右侧输尿管中上段交界区占位性病变,并伴有上游输尿管及肾盂肾盏重度积水。尿液脱落细胞学检查发现恶性肿瘤细胞。右侧输尿管镜检查示肿瘤位于右侧输尿管上段,最大直径约为1.5 cm,周围输尿管黏膜未见息肉样增生,膀胱内亦无结石或占位性病变。肿瘤活体组织病理检查显示患者右侧输尿管存在肿瘤性病变。由于病变组织量较少,免疫组织化学结果不支持上皮源性肿瘤的诊断,须进一步鉴别PEComa、腺泡状软组织肉瘤等。为明确诊断,患者接受腹腔镜下输尿管部分切除术。术后病理诊断:输尿管肿物为恶性PEComa,肿瘤已浸润至外膜层,伴有静脉侵犯。输尿管恶性PEComa罕见,该病的恶性诊断指征包括:瘤体>5 cm、浸润性边缘、高分化细胞核并细胞丰富、核分裂象≥1个/50高倍视野、肿瘤性坏死和血管侵犯。具有2个或以上指征时考虑为恶性。瘤体大小与肿瘤发生部位的生长空间有关,瘤体> 5 cm可能不是诊断恶性PEComa的必需条件。当其活检标本较小且病理组织形态不典型时,须结合细胞学检查及相关免疫组织化学帮助鉴别和确诊。免疫组织化学染色转录因子增强子3(transcription factor enhancer 3,TFE3)阳性在特定肿瘤的病理诊断中可以起到一定的辅助作用,但其特异度和敏感度相对较低,不能单凭TFE3核阳性表达就诊断为某一肿瘤,更不能代替分子检测判断是否存在基因重排。在病理组织形态特征不典型的情况下,需要综合分析,充分结合免疫表达结果和形态学表现,必要时加做基因检测才能得出正确的病理诊断。This study reports a rare case of malignant perivascular epithelioid cell tumor(PEComa)of the ureter.A patient presented with persistent right-sided lower back discomfort for 15 years with worsening symptoms and was found to have a lesion in the right ureter.Abdominal computed tomography and magnetic resonance imaging revealed a mass in the junction of the middle and upper sections of the right ureter,accompanied by severe hydronephrosis in the upstream ureter and renal pelvis.Urinary exfoliative cytology revealed malignant tumor cells.Ureteroscopy localized the tumor of the upper section of the right ureter,measuring approximately 1.5 cm in maximum diameter,with no polypoid growth observed in the surrounding mucosa and no lesions in the bladder.Biopsy findings confirmed a neoplastic lesion in the right ureter,but limited tissue volume and immunohistochemical results ruled out an epithelial origin,necessitating further differentiation between PEComa and alveolar soft part sarcoma.To clarify the diagnosis,the patient underwent laparoscopic partial ureterectomy.Postoperative pathological diagnosis confirmed malignant PEComa with tumor invasion into the outer layer and venous involvement.Malignant PEComa of the ureter is rare,and diagnostic criteria include tumor size>5 cm,infiltrative margins,highly differentiated and cellular nuclei,mitotic figures≥1/50 HPF,tumor necrosis,and vascular invasion.Malignancy is considered when two or more criteria are met.Tumor size may depend on the available growth space at the site of origin and may not be a definitive criterion for malignancy.When biopsy samples are limited and pathological is atypical,cytological examination and immunohistochemistry are critical for differentiation and diagnosis.While transcription factor enhancer 3(TFE3)immunohistochemical positivity can assist in diagnosing specific tumors,its sensitivity and specificity are limited.It cannot solely confirm a diagnosis or replace molecular testing for gene rearrangement.In cases with atypical pathological fea

关 键 词：输尿管 恶性血管周上皮样细胞肿瘤 转录因子增强子3 

分 类 号：R737.13[医药卫生—肿瘤]