Primary pulmonary small cell carcinoma in a 13-year-old boy with prolonged second-hand tobacco smoke exposure: A rare pediatric lung malignancy with a review of reported cases and registry data.
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BACKGROUND: Primary pulmonary small cell carcinoma (PPSCC) is an exceptionally rare, highly aggressive neuroendocrine carcinoma in the pediatric population, with only a handful of cases reported worldwide. Its rarity, nonspecific clinical presentation, and limited published experience often delay diagnosis and leave important questions regarding its clinicopathological characteristics and potential risk factors unanswered. CASE PRESENTATION: A 13-year-old boy presented with a four-month history of persistent cough, progressive dyspnea, recurrent lower respiratory tract infections, and significant unintentional weight loss despite treatment for presumed asthma and pneumonia. Shortly before admission, he developed right parasternal chest pain. He had no history of active smoking; however, he had a prolonged history of exposure to environmental tobacco smoke at home (heavy paternal smoking). Contrast-enhanced chest computed tomography revealed a large right hilar mass with mediastinal extension, bronchial obstruction, and metastatic involvement of the liver and abdominal lymph nodes. Bronchoscopic biopsy followed by immunohistochemical analysis (AE1/AE3+, CD56+, TTF-1+, CD45-, LCA-) confirmed the diagnosis of primary pulmonary small cell carcinoma. Given the advanced stage of disease, systemic platinum-based chemotherapy was initiated. To provide broader clinical context, we additionally reviewed previously reported pediatric cases of PPSCC and available registry data, focusing on demographic characteristics, presenting features, diagnostic approaches, treatment strategies, and outcomes. CONCLUSION: This case emphasizes that PPSCC, although exceptionally uncommon, should be considered in children and adolescents with persistent respiratory symptoms, unexplained weight loss, or non-resolving pulmonary infiltrates despite appropriate treatment. Early cross-sectional imaging followed by timely tissue diagnosis is essential to avoid diagnostic delay.