Neonatal Neuroblastoma: A Monograph on Pathogenesis, Diagnosis, and Management

Abstract

Neuroblastoma presenting in the neonatal period is a clinically and biologically heterogeneous entity with a wide spectrum of behaviors, from spontaneous regression to aggressive progression. This review synthesizes the current understanding of the disease to provide a clear framework for diagnosis and management. Based on a comprehensive review of foundational and recent literature, this article covers the key domains of epidemiology, pathogenesis, clinical presentation, and prognosis. Neonatal neuroblastoma accounts for approximately 5% of all cases and is driven by molecular features like MYCN amplification. Clinical presentations are highly variable, ranging from asymptomatic masses to life-threatening emergencies. Diagnosis relies on urinary catecholamines, multi-modal imaging, and histopathology, with the International Neuroblastoma Risk Group (INRG) system being critical for classification. The management has evolved to a successful risk-stratified approach where active observation is standard for low-risk disease, while surgery and chemotherapy are reserved for higher-risk patients. This strategy allows for therapy de-escalation in the majority of infants, leading to excellent survival in low- and intermediate-risk groups, though the prognosis for high-risk disease remains poor.