Guercio Brendan John, Iyer Gopa, Kidwai Wajih Zaheer, Lacouture Mario E, Ghafoor Soleen, Rossi Anthony M, Assis David N, Chen Ying-Bei, Busam Klaus J, Janjigian Yelena Y, Jhaveri Komal, Feldman Darren R, Capozzi Anne, Figueroa Vanessa, Bajorin Dean F, Rosenberg Jonathan E, Hollmann Travis J, Funt Samuel A
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Department of Medicine, Weill Cornell Medicine, New York, New York, USA.
Case Rep Oncol. 2021 Mar 12;14(1):430-438. doi: 10.1159/000514345. eCollection 2021 Jan-Apr.
Metastatic primary cutaneous extramammary Paget disease (EMPD) is a rare clinical entity with a 5-year survival <10% and no standard therapy. We report the first case to our knowledge of metastatic EMPD with treatment response to checkpoint inhibitor immunotherapy. The patient had diffusely metastatic disease and previously progressed on cytotoxic chemotherapy and a molecularly targeted agent. Treatment with four cycles of ipilimumab 1 mg/kg plus nivolumab 3 mg/kg resulted in a durable partial response lasting 7 months. Analysis of metastatic tumor tissue failed to identify known predictors of treatment response to immune checkpoint inhibitors, such as high PD-L1 expression, high tumor mutation burden, or microsatellite instability. These findings support further investigation of immune checkpoint inhibition for the management of metastatic EMPD, which currently has an abysmal prognosis and no standard therapies.
转移性原发性皮肤外乳房佩吉特病（EMPD）是一种罕见的临床实体，5年生存率<10%，且尚无标准治疗方法。据我们所知，我们报告了首例对检查点抑制剂免疫疗法有治疗反应的转移性EMPD病例。该患者患有弥漫性转移性疾病，先前接受细胞毒性化疗和分子靶向药物治疗时病情进展。使用四个周期的1 mg/kg伊匹单抗加3 mg/kg纳武单抗治疗产生了持续7个月的持久部分缓解。对转移性肿瘤组织的分析未能确定对免疫检查点抑制剂治疗反应的已知预测指标，如高PD-L1表达、高肿瘤突变负荷或微卫星不稳定性。这些发现支持进一步研究免疫检查点抑制在转移性EMPD治疗中的应用，目前转移性EMPD预后极差且无标准治疗方法。
