Tseng Jui-Ju, Chen Chi-Yen, Liang Chiung-Wen, Huang Fang-Liang
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taiwan.
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Pediatr Neonatol. 2025 Mar;66(2):152-156. doi: 10.1016/j.pedneo.2024.03.008. Epub 2024 Jun 19.
Primary extragonadal choriocarcinoma (PEGCC) in male is rare. It is highly malignant, typically presents with distant metastasis at the time of diagnosis, and responds poorly to treatment. Because of its associated high levels of PD-L1, the PD-1/PD-L1 pathway is a likely therapeutic target. Herein, we report our experience of treating pediatric PEGCC in six boys at a tertiary hospital.
We analyzed the data of six boys with pathologically confirmed PEGCC between 2009 and 2021. Their clinicodemographic and histopathological characteristics as well as treatments and clinical outcomes were retrieved from their medical charts.
The patients' median age was 15 (range: 12-17) years. The most common primary tumor site was the mediastinum (67%, 4/6), with one case each in the retroperitoneum (16.7%) and brain (16.7%). Except for the patient with brain PEGCC, all presented with metastasis at the time of diagnosis. The following metastatic sites were observed: the lungs (100%, 5/5), brain (3/5, 60%), liver (3/5, 60%), kidneys (2/5, 40%), and spleen (1/5, 20%). Most patients had dry cough, dyspnea, and hemoptysis at initial presentation, likely due to lung metastasis. Serum human chorionic gonadotropin (HCG) levels were highly elevated in all patients. All patients received platinum-based cytotoxic chemotherapy. The patient with brain choriocarcinoma underwent surgical tumor resection; all others underwent only surgical biopsy. Strong positive PD-L1 immunohistochemical staining was noted for two patients. One patient received the PD-L1 inhibitor pembrolizumab and achieved a good response. Our cohort's 1-year survival rate was 33.3%, with a median survival of 4.34 months. Serum HCG levels remained normal in the two survivors during follow-up visits.
The poor response to current platinum-based chemotherapy remains a major challenge in the management of pediatric PEGCC. Adding pembrolizumab to a conventional chemotherapy regimen may improve the outcomes in boys with PEGCC.
男性原发性性腺外绒毛膜癌（PEGCC）较为罕见。它具有高度恶性，通常在诊断时就出现远处转移，且对治疗反应不佳。由于其PD-L1水平较高，PD-1/PD-L1通路可能是一个治疗靶点。在此，我们报告在一家三级医院治疗6名男孩小儿PEGCC的经验。
我们分析了2009年至2021年间6名经病理确诊为PEGCC的男孩的数据。从他们的病历中获取了他们的临床人口统计学和组织病理学特征以及治疗方法和临床结果。
患者的中位年龄为15岁（范围：12 - 17岁）。最常见的原发肿瘤部位是纵隔（67%，4/6），腹膜后（16.7%）和脑（16.7%）各有1例。除脑PEGCC患者外，所有患者在诊断时均出现转移。观察到的转移部位如下：肺（100%，5/5）、脑（3/5，60%）、肝（3/5，60%）、肾（2/5，40%）和脾（1/5，20%）。大多数患者初诊时出现干咳、呼吸困难和咯血，可能是由于肺转移。所有患者血清人绒毛膜促性腺激素（HCG）水平均显著升高。所有患者均接受了铂类细胞毒性化疗。脑绒毛膜癌患者接受了手术肿瘤切除；其他患者仅接受了手术活检。两名患者的PD-L1免疫组化染色呈强阳性。一名患者接受了PD-L1抑制剂帕博利珠单抗治疗并取得了良好反应。我们队列的1年生存率为33.3%，中位生存期为4.34个月。两名幸存者在随访期间血清HCG水平保持正常。
目前铂类化疗反应不佳仍然是小儿PEGCC治疗中的一个主要挑战。在传统化疗方案中添加帕博利珠单抗可能会改善PEGCC男孩的治疗结果。
