Case presentation

A man aged 41 years who had a past medical history significant for bilateral lower extremity varicosities and a prior 20-pack-year smoking history reported several days of fatigue to his primary care physician. His family history was notable for metastatic kidney cancer in his father. On laboratory testing, he was anemic (hemoglobin, 11.2 g/dL), with iron studies suggestive of iron-deficiency anemia. He denied any melena, hematochezia, or hematuria and underwent a full workup, including colonoscopy and capsule endoscopy, which were negative for sources of occult bleeding. The patient eventually underwent computed tomography (CT) scans of the chest, abdomen, and pelvis, which demonstrated a large, heterogeneously enhancing right renal mass measuring 9.5 × 8.2 × 6.8 cm with tumor thrombus invasion of the right renal collecting system, right renal vein, and inferior vena cava (IVC) above the hepatic veins. In addition, there was a pulmonary nodule in the left lower lobe measuring 0.8 cm, which was believed to be concerning for metastatic disease and subcentimeter retroperitoneal lymph nodes. One month later, he proceeded with a CT-guided biopsy of the pulmonary nodule at an outside hospital, with pathology revealing metastatic renal cell carcinoma (RCC). The tumor cells were positive for PAX8 and CAIX and negative for TTF1, which were suggestive of clear cell RCC (ccRCC) histology. He proceeded with a fluorodeoxyglucose F18 positron emission tomography (PET) scan for further evaluation, which demonstrated abnormal uptake in the right renal mass, a soft tissue mass in the IVC, and several small pulmonary nodules in bilateral lower lobes. His Eastern Cooperative Oncology Group (ECOG) performance status was 0. The patient was started on nivolumab plus ipilimumab (3 mg/kg and 1 mg/kg every 3 weeks, respectively), both of which are immune checkpoint inhibitors (ICIs), for intermediate-risk, metastatic RCC (according to the International Metastatic Renal Cell Carcinoma Database Consortium [IMDC] risk model) by an outside medical oncology team before presentation at Emory University Hospital.

中文翻译：

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年轻转移性肾细胞癌患者的细胞减灭术、全身治疗、遗传学评价和患者观点

 案例介绍

一名 41 岁的男性，既往有双侧下肢静脉曲张病史，既往有 20 包年吸烟史，向其初级保健医生报告了数天的疲劳。他的家族史以他父亲的转移性肾癌而闻名。实验室检查显示，他贫血（血红蛋白，11.2 g/dL），铁研究表明缺铁性贫血。他否认有任何黑便、便血或血尿，并接受了全面的病情检查，包括结肠镜检查和胶囊内窥镜检查，结果显示隐匿性出血来源呈阴性。患者最终接受了胸部、腹部和骨盆的计算机断层扫描 （CT） 扫描，显示 9.5 × 8.2 × 6.8 cm 的较大、异质性增强的右肾肿块，癌栓侵犯右肾集合系统、右肾静脉和肝静脉上方的下腔静脉 （IVC）。此外，左下叶有一个 0.8 cm 的肺结节，据信这与转移性疾病和亚厘米级腹膜后淋巴结有关。一个月后，他在一家外部医院进行了 CT 引导下的肺结节活检，病理显示转移性肾细胞癌 （RCC）。肿瘤细胞 PAX8 和 CAIX 阳性，TTF1 阴性，提示透明细胞 RCC （ccRCC） 组织学。他继续进行氟代脱氧葡萄糖 F18 正电子发射断层扫描 （PET） 扫描以进行进一步评估，结果显示右侧肾脏肿块摄取异常，IVC 软组织肿块和双侧下叶几个小肺结节。他的东部肿瘤合作组 （ECOG） 体能状态为 0。 患者开始服用纳武利尤单抗加伊匹木单抗 （分别为 3 mg/kg 和 1 mg/kg，每 3 周一次），这两种药物都是免疫检查点抑制剂 （ICI），用于治疗中等风险、转移性 RCC （根据国际转移性肾细胞癌数据库联盟 [IMDC] 风险模型），然后在埃默里大学医院就诊。