Abstract：
A 13-year old Latino male presented with recurrent gross hematuria, 5cm right-sided poorly defined heterogeneous mass, enlarged retrocaval lymph nodes, and 1.2 cm paratracheal lymph node. Given the need for multiple blood transfusions, robot-assisted radical nephrectomy with lymph node dissection was performed. Pathology revealed pT3a high-grade tumor, clear margins, and positive lymph node. Additionally, with multiple sickled RBCs and loss of staining of SMARCB1 in tumor specimen, and hemoglobin electrophoresis suggesting sickle cell trait, diagnosis of metastatic renal medullary carcinoma was confirmed. The patient was enrolled into COG AREN 03B2 trial, and has completed 10 cycles of carboplatin/gemcitabine/bortezomib alternating with cisplatin/gemcitabine/paclitaxel, with no evidence of recurrent disease 9 months post-surgery.
摘要：
一名13岁的拉丁裔男性出现复发性肉眼血尿，5cm右侧不均匀质量，腔静脉后淋巴结肿大，气管旁淋巴结1.2cm。鉴于需要多次输血,进行了机器人辅助的根治性肾切除术和淋巴结清扫术。病理显示pT3a高级别肿瘤，清晰的边距，淋巴结阳性.此外,肿瘤标本中多个镰状红细胞和SMARCB1染色丢失，和血红蛋白电泳显示镰状细胞特征，诊断为转移性肾髓样癌。患者被纳入COGAREN03B2试验，并完成了10个周期的卡铂/吉西他滨/硼替佐米与顺铂/吉西他滨/紫杉醇交替治疗，手术后9个月没有复发疾病的证据。
