Adult-onset refractory retroperitoneal neuroblastoma with diagnostic and therapeutic challenges: a case report and review of literature

Neuroblastoma is a rare, aggressive childhood malignancy originating from neural crest progenitor cells of the sympathetic nervous system. While primarily a pediatric tumor, adult-onset neuroblastoma poses significant diagnostic and therapeutic challenges owing to its rarity, absence of standardized treatment protocols, and poor response to therapy. This case highlights a unique presentation of refractory retroperitoneal neuroblastoma in an adult female patient, managed with limited resources in a resource-constrained setting. A 41-year-old female from a Dalit community in eastern Nepal presented with a 2-month history of abdominal pain, early satiety, and bloating. Imaging revealed a large retroperitoneal mass encasing critical vascular structures. Histopathology and biopsy confirmed neuroblastoma, but cytogenetic analysis could not be performed owing to resource limitations. The tumor was classified as stage L2 per the International Neuroblastoma Risk Group Staging System. Surgical resection was deemed infeasible owing to tumor encasement of major vessels. The patient was treated with eight cycles of alternating vincristine, cisplatin, etoposide, and cyclophosphamide; and vincristine, carboplatin, etoposide, and cyclophosphamide chemotherapy regimens, resulting in minimal tumor shrinkage. Subsequent palliative chemotherapy with temozolomide and irinotecan also failed to induce significant tumor regression. Advanced therapeutic options such as chimeric antigen receptor T cell therapy were unavailable owing to resource constraints, leaving the patient with limited treatment options. This case underscores the challenges in diagnosing and managing adult-onset neuroblastoma, particularly in resource-limited settings where advanced diagnostic and therapeutic options are unavailable. The absence of standardized treatment protocols for adult neuroblastoma highlights the need for focused research on context-adapted treatment algorithms, affordable molecular diagnostics, and cost-effective therapeutic approaches, particularly in resource-limited settings. This report emphasizes the importance of collaborative efforts to develop globally accessible treatment strategies for rare and aggressive malignancies such as refractory neuroblastoma, particularly in underserved regions.