目的：探讨食管恶性黑色素瘤（MEM）患者的临床特征，分析以PD-1单抗为基础的免疫治疗疗效及预后的影响因素。方法：收集2011年5月至2022 年6月在北京大学肿瘤医院黑色素瘤暨肉瘤内科收治的手术不可切除或者转移性MEM患者的临床资料，包括基本信息、病理资料、实验室指标、治疗方案和生存情况等。采用实体瘤疗效评价标准1.1进行疗效评估，用Kaplan-Meier 曲线进行生存分析，用单因素和多因素COX回归进行预后分析。结果：共收集到有完整资料的MEM患者79例，中位年龄59.0岁。大部分患者发病时伴有进食哽噎和吞咽困难等症状，以食管下段发病最为常见，NRAS和KIT 基因突变的比例较高，乳酸脱氢酶（LDH）水平升高占21.5%；其中，17 例患者接受化疗为主的治疗方案，62 例患者接受PD-1单抗为主的免疫治疗方案，客观有效率分别为5.9%和28.8%，疾病控制率分别为35.3%和72.9%，总生存期（OS）分别为7个月[95%CI（0，16.7）个月]和13.2个月[95%CI（9.5，16.9）个月]（P<0.05）。多因素分析显示，就诊时LDH水平、ECOG评分、是否有临床症状、是否接受PD-1单抗治疗与OS显著相关（P<0.05）。结论：MEM患者对PD-1单抗为主的免疫治疗应答较好，LDH升高、ECOG评分≥2分、就诊时有临床症状可能是预后的不良因素。

Objective: To explore clinical characteristics of patients with malignant esophageal melanoma (MEM) and analyze the efficacy and prognostic factors of PD-1 monoclonal antibody-based immunotherapy. Methods: Clinical data of patients with unresectable or metastatic MEM in the Department of Melanoma and Sarcoma of Peking University Cancer Hospital from May 2011 to June 2022 were collected, including basic information, pathological data, laboratory indicators, treatment patterns and survival situation. The clinical efficacy was evaluated using the Response Evaluation Criteria in Solid Tumors 1.1 (RECST 1.1). Kaplan-Meier curve was used for survival analysis, and univariate and multivariate COX regression analyses were used to screen prognostic factors. Results: A total of 79 MEM patients with complete data were enrolled, with a median age of 59.0. Most of the patients were accompanied by choking and dysphagia with the most common anatomic site of lower esophagus. There was a high mutant rate in NRAS and KIT, and the rate of LDH elevation accounted for 21.5%. Among them, 17 patients received chemotherapy, and 62 patients received PD-1 monoclonal antibody-based immunotherapy. The objective response rate (ORR) was 5.9% and 28.8%, and disease control rate ( DCR) was 35.3% and 72.9%, respectively. Overall survival (OS) in immune therapy group was significantly longer (13.2 months, 95%CI [9.5,16.9] months vs 7.0 months, 95%CI [0,16.7] months, P=0.019) than that in the chemotherapy group. Multivariate analysis showed that OS was significantly correlated with serum LDH, ECOG score, clinical symptoms and PD-1 monoclonal antibody-based immunotherapy (all P<0.05). Conclusion: MEM patients respond better to immune therapy, and elevated serum LDH, ECOG≥2, clinical symptoms at visiting might be the poor prognosis factors.

国家自然科学基金（No. 82272676, No. 81972566）；北京市医管局登峰人才计划（No. DFL20220901）；希思科-罗氏肿瘤研究基金（No. Y-Roche2019/2-0076）