Pancreatic Ductal Adenocarcinoma with Atypical Genomic Profile: A Case of Long-Term Survival with KRAS-Wildtype, MSI-H, High TMB Tumor

We present a remarkable case of long-term survival in a 43-year-old man with no significant medical history, diagnosed in 2018 with metastatic pancreatic ductal adenocarcinoma (PDAC). The patient initially experienced postprandial upper abdominal discomfort that progressed to obstructive jaundice, leading to the detection of a pancreatic head mass with metastatic lymphadenopathy. Despite the generally poor prognosis linked to metastatic PDAC, the patient achieved sustained disease control with FOLFIRINOX chemotherapy and later underwent surgical resection after complications related to vascular involvement. Next-generation sequencing (NGS) identified a rare KRAS-wildtype tumour with microsatellite instability (MSI) and a high tumour mutational burden (TMB). This case highlights the significance of comprehensive molecular profiling and personalised therapeutic strategies, which could improve outcomes for select patients with advanced PDAC