Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report
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DOI：
10.1007/s10689-020-00195-0
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发表时间：
2020-07-15
期刊：
影响因子：
2.2
通讯作者：
Nakaigawa, Noboru
中科院分区：
文献类型：
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作者：
Iribe, Yasuhiro;Furuya, Mitsuko;Nakaigawa, Noboru
遗传性平滑肌瘤病和肾细胞癌 (HLRCC) 是一种罕见的常染色体显性遗传疾病，由富马酸水合酶基因 (FH) 种系突变引起。携带 FH 突变的个体有患肾细胞癌 (RCC) 的风险。 HLRCC 相关性肾细胞癌 (HLRCC-RCC) 患者具有侵袭性临床病程，但目前尚无针对晚期 HLRCC-RCC 的标准化治疗方法。我们报告了一名 49 岁男性的侵袭性肾细胞癌病例。在接受右肾肾输尿管全切除术九周后，他在端口部位进行了转移瘤切除术。初次手术后 14 周内，右侧腹膜后间隙出现多个复发肿瘤。病理诊断为FH缺陷型肾细胞癌。基因检测发现FH（c.641_642delTA）杂合种系突变，证实了HLRCC-RCC的诊断。他接受了免疫检查点抑制剂（ICIs）纳武单抗和伊匹单抗的联合治疗作为一线治疗。经过 31 周的 ICI 治疗后，获得了完全缓解。自初次手术治疗以来，无病状态已延长了24个月。这是首例纳武单抗联合伊匹单抗成功治疗 HLRCC-RCC 的病例报告。这种联合免疫疗法有望成为治疗晚期 HLRCC-RCC 患者的有效方法。
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant disorder that results from a germline mutation in the fumarate hydratase gene (FH). Individuals withFHmutations are at risk of developing renal cell carcinoma (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is as yet no standardized therapy for advanced HLRCC-RCC. We report an aggressive RCC case in a 49-year-old man. Nine weeks after undergoing a total nephroureterectomy of the right kidney, he had a metastasectomy at port site. Within 14 weeks of the initial surgery, multiple recurrent tumors developed in the right retroperitoneal space. The pathological diagnosis was FH-deficient RCC. Genetic testing identified a heterozygous germline mutation ofFH(c.641_642delTA), which confirmed the diagnosis of HLRCC-RCC. He received combination therapy with the immune checkpoint inhibitors (ICIs) nivolumab and ipilimumab as the first-line therapy. After 31 weeks of ICI treatment, a complete response was achieved. The disease-free condition has been prolonged for 24 months since the initial surgical treatment. This is the first case report of successful treatment of HLRCC-RCC with nivolumab plus ipilimumab. This combination immunotherapy is expected to be an effective approach to treat patients with advanced-stage HLRCC-RCC.