Treatment outcomes and next-generation sequencing of a rare malignancy - urachal carcinoma: case report and literature review

UrC is a rare malignancy with uncertain pathogenesis. The main symptoms include gross hematuria, abdominal pain, and an abdominal mass. The lack of comprehensive clinical analysis necessitates selecting an optimal therapeutic strategy for each patient. Here, we present a comprehensive review of the clinical manifestations, diagnosis, and treatment of UrC, illustrated with a case successfully managed through surgical intervention and adjuvant chemoradiotherapy. Meanwhile, the analysis of NGS detected two tumor-specific mutated genes: MYC (gene amplification, CN: 59.5) and FLT1 (missense mutation, c.1061G>A (p.R354Q), abundance: 2.1%). These findings may provide insights into tumor growth and guide therapeutic strategies.