The following is a summary of “Pediatric Primary Extragonadal Choriocarcinoma – A Study on Male Patients at a Single Tertiary Medical Institution,” published in the June 2024 issue of Pediatrics by Tseng et al.

Primary extragonadal choriocarcinoma (PEGCC) in males is an exceedingly rare and highly malignant tumor that often presents with distant metastasis at diagnosis and typically exhibits poor response to conventional treatments. Notably, PEGCC is associated with elevated PD-L1 levels, suggesting the PD-1/PD-L1 pathway is a potential therapeutic target. This study reports the clinical experience of treating pediatric PEGCC in six boys at a tertiary medical institution, providing insights into their clinicodemographic profiles, histopathological features, treatments, and outcomes.

Data from six boys with pathologically confirmed PEGCC, treated between 2009 and 2021, were retrospectively analyzed. Information regarding their clinicodemographic and histopathological characteristics, treatment modalities, and clinical outcomes were extracted from medical records. The median age of the patients was 15 years (range: 12–17). The most common primary tumor site was the mediastinum (67%, 4/6), followed by one case each in the retroperitoneum (16.7%) and brain (16.7%). Except for the patient with brain PEGCC, all presented with metastasis at diagnosis. Metastatic sites included the lungs (100%, 5/5), brain (60%, 3/5), liver (60%, 3/5), kidneys (40%, 2/5), and spleen (20%, 1/5). Initial symptoms frequently included dry cough, dyspnea, and hemoptysis, likely due to lung metastasis. Serum human chorionic gonadotropin (HCG) levels were markedly elevated in all patients.

Treatment regimens primarily involved platinum-based cytotoxic chemotherapy. The patient with brain choriocarcinoma underwent surgical tumor resection, while the others received only surgical biopsies. Immunohistochemical analysis revealed strong PD-L1 positivity in two patients. One of these patients was treated with the PD-L1 inhibitor pembrolizumab and exhibited a favorable response. The 1-year survival rate for the cohort was 33.3%, with a median survival duration of 4.34 months. During follow-up, the two surviving patients maintained normal serum HCG levels.

In conclusion, the management of pediatric PEGCC remains challenging due to the poor response to conventional platinum-based chemotherapy. The incorporation of pembrolizumab, a PD-L1 inhibitor, into treatment regimens shows promise in improving outcomes for boys with PEGCC. This study underscores the need for further research to optimize therapeutic strategies and enhance survival rates for this rare and aggressive malignancy.

Source: sciencedirect.com/science/article/pii/S1875957224000974