非妊娠绒毛膜癌是一种罕见且侵袭性的生殖细胞肿瘤。在这里,我们介绍了一名绝经后49岁女性的病例,该女性患有转移性疾病,最初通过七个周期的EMA-CO化疗获得了完整的影像学和生物标志物反应。一旦复发,她接受了两个独立的化疗,最初使用紫杉醇/顺铂/依托泊苷,后来使用FOLFOX。肿瘤分析显示22%的PD-L1阳性(肿瘤比例评分),她用pembrolizumab治疗。然而,在抗PD1治疗的所有三个周期中,βhCG水平突然和异常上升。患者在劳累时出现呼吸困难,咳嗽,和右侧疼痛。CT成像显示肝转移和无数新的肺转移明显进展,患者在开始pembrolizumab后10周死亡。在这里,我们描述了该患者的临床表现和管理,以及可能解释pembrolizumab反应过度进展的分子畸变分析。
Non-gestational choriocarcinoma is a rare and aggressive germ cell tumor. Here we present the case of a post-menopausal 49-year-old woman who presented with metastatic disease and initially achieved a complete radiographic and biomarker response with seven cycles of EMA-CO chemotherapy. Upon recurrence, she received two separate courses of chemotherapy, initially with paclitaxel/cisplatin/etoposide and later FOLFOX. Tumor analysis revealed 22% PD-L1 positivity (tumor proportion score) and she was treated with pembrolizumab. However, βhCG levels rose abruptly and uncharacteristically through all three cycles of anti-PD1 therapy. The patient developed dyspnea on exertion, cough, and right flank pain. CT imaging demonstrated marked progression of liver metastases and innumerable new pulmonary metastases and the patient died 10 weeks after starting pembrolizumab. Here we describe the clinical presentation and management of this patient, along with analysis of molecular aberrations which could potentially explain hyperprogression in response to pembrolizumab.