黑色素瘤导致大部分与皮肤癌相关的死亡。尽管有新的治疗选择，转移性黑色素瘤的预后仍然较差。免疫检查点抑制（ICI）疗法已被证明可以延长晚期黑色素瘤患者的总生存期，但与皮肤来源的黑色素瘤相比，粘膜黑色素瘤的反应较差。我们报告了一名于 2020 年 6 月诊断出患有直肠粘膜黑色素瘤的患者。由于为了实现无肿瘤情况而进行的手术干预需要切除直肠，因此采用了伊匹单抗和纳武单抗的新辅助全身免疫疗法发起。由于四剂联合免疫疗法后的重新分期和结肠镜检查显示部分缓解，患者决定放弃预先计划的手术，并开始纳武单抗维持治疗。重复结肠镜检查显示四剂纳武单抗后完全缓解。在持续使用纳武单抗进行 ICI 治疗且没有肿瘤复发的证据后，经过近 2 年的连续治疗后，免疫治疗于 2022 年 7 月停止。在进一步随访期间，患者保持无肿瘤状态。新辅助免疫疗法在晚期黑色素瘤中得到了更多的探索。通过在手术切除基本上可手术的肿瘤之前进行 ICI 治疗，应该可以实现更强、更多样化的免疫反应。我们报告的案例表明，这种方法对粘膜黑色素瘤也有效，尽管其对免疫治疗的反应通常较低。版权所有 © 2024 Krueger、Eisenburger、Tasdogan、Zimmer、Livingstone、Hadaschik、Theurer、Brodin、Schadendorf 和 Ugurel。

Melanoma causes the majority of skin cancer-related deaths. Despite novel therapy options, metastatic melanoma still has a poor prognosis. Immune checkpoint inhibition (ICI) therapy has been shown to prolong overall survival in patients with advanced melanoma, but mucosal melanomas respond less favorably compared to melanomas of cutaneous origin. We report on a patient with a mucosal melanoma of the rectum diagnosed in June 2020. Since a surgical intervention in order to achieve a tumor-free situation would have required an amputation of the rectum, a neo-adjuvant systemic immunotherapy with ipilimumab and nivolumab was initiated. As restaging and colonoscopy after four doses of this combination immunotherapy showed a partial response, the patient decided against the pre-planned surgery and a maintenance therapy with nivolumab was started. Repeated colonoscopy showed a complete response after four doses of nivolumab. After ongoing ICI therapy with nivolumab and no evidence of tumor relapse, immunotherapy was stopped in July 2022 after nearly 2 years of continuous treatment. The patient remained tumor-free during further follow-up. Neo-adjuvant immunotherapy is getting more explored in advanced melanoma. By administering ICI therapy before surgical resection of an essentially operable tumor, a stronger and more diverse immunological response is supposed to be achieved. Our reported case demonstrates that this approach could also be effective in mucosal melanoma despite of its generally lower response to immunotherapy.Copyright © 2024 Krueger, Eisenburger, Tasdogan, Zimmer, Livingstone, Hadaschik, Theurer, Brodin, Schadendorf and Ugurel.