原发性输尿管恶性横纹肌样瘤一例报告并文献复习

Primary malignant rhabdoid tumor of the ureter： a case report and literature review

目的 探讨原发性输尿管恶性横纹肌样瘤（malignant rhabdoid tumor of the ureter,MRTU）的临床特征及诊治方法.方法 回顾性分析2014年5月收治的1例MRTU患儿的临床资料,并复习相关文献.患儿,女,6岁.主诉左腰部疼痛2周.查体：腹部未触及包块,左肾区稍压痛.超声检查：左肾、输尿管积水,左输尿管跨髂血管位置强回声占位性病变,边界不清.增强CT检查：左肾、输尿管扩张,输尿管下段占位性病变,腹腔未见转移灶及占位性病变.全麻下行输尿管部分切除＋端端吻合术.取左下腹纵行切口,术中见肿瘤浸润输尿管全层并完全堵塞输尿管腔.肿瘤大小3.3 cm×2.1 cm.切除粘连性浸润的后腹膜,行输尿管端端吻合.结果 病理检查：肿瘤细胞呈多边形,核圆,多呈空泡状,核膜明显而核仁突出,核分裂象多见,有丰富的嗜酸性胞质.免疫组化染色检查：角蛋白（＋）,上皮细胞膜抗原（＋）,波形蛋白（＋）,INI1（-）.病理诊断为MRTU.异环磷酰胺＋卡铂＋依托泊苷方案和长春新碱＋多柔比星＋环磷酰胺方案交替化疗4个疗程（3个月）后,CT检查示肺部转移,家长放弃治疗.术后8个月因全身转移死亡.结论 原发性输尿管MRTU恶性程度高,浸润转移性强,预后差.

Objective To discuss the clinical and pathological features of malignant rhabdoid tumor of the ureter （MRTU）.Methods One case of MRTU was reported, a six-year-old girl was admitted to our hospital on May 29, 2014, and presented left loin pain 2 weeks, ultrasound showed gradually progressing hydronephrosis and hydroureter.During a physical examination, she felt tenderness in the left kidney area and no mass was palpable in abdomen.The ultrasound showed left sided gross hydroureteronephrosis and a round hyperechogenic mass in the inferior pole of the left ureter （In front of the left iliac vessel）, with no obvious borders.Contrast-enhanced CT suggested a gross dilatation of the left kidney and ureter with a solidappearing lesion in the lower ureter;neither additional abdominal abnormalities nor enlarged lymph nodes were seen in both examinations.The surgery began with incision of left lower abdomen.The partial ureter of neoplasm was excised along with invaded psoas and posterior peritoneum by gross inspection, then ureteroureterostomy was performed.The severed ureter was completely blocked with the ill-defined neoplasm and was 3.3 cm in length and 2.1 cm in width.Results The ureteral neoplasm was excised,along with the invaded psoas and posterior peritoneum,after that ureteroureterostomy was performed.HE showed the diffuse large round nuclei, vesicular chromatin, prominent nucleoli cells, and moderate amounts of eccentrically placed eosinophilic cytoplasm.Immunohistochemical studies were positive for cytokeratin, epithelial membrance antigen and vimentin, negative for INI1, METU hereby was confirmed.She underwent a chemotherapy regimen consisting of ICE, alternating with VDC.Four courses chemotherapy （3 months） later,CT scan suggested hematogenous metastasis of lung.The family refused further treatment and the patient died of systemic metastasis eight months after surgery.Conclusion MRTU was a rare and highly aggressive tumor with a poor prognosis.