Successful Identification and Treatment of Cancer of Unknown Primary
Originating from Gastric Cancer Using Comprehensive Genomic Profiling
and Immune Checkpoint Inhibitor Therapy
Abstract
Background: Cancer of unknown primary (CUP) is a challenging malignancy
characterized by metastatic tumors with an unidentified primary site,
even after extensive pathological and radiographic evaluation. Recent
advancements in gene expression profiling and comprehensive genomic
profiling (CGP) using next-generation sequencing (NGS) have enabled the
identification of potential tissue origins, thereby facilitating
personalized treatment strategies. Although most cases of CUP present as
adenocarcinomas or poorly differentiated tumors, the treatment remains
largely empirical, with limited success from molecular tailored
therapies. However, advances in tumor DNA sequencing and targeted
therapies hold great promise for enhancing patient outcomes. Case: A
72-year-old woman presented with epigastric pain and was diagnosed with
a duodenal tumor and gastric ulceration via esophagogastroduodenoscopy.
A histological evaluation revealed poorly differentiated adenocarcinoma
in the duodenum, and the immunohistochemistry findings supported a
pancreatobiliary origin. An endoscopic ultrasound-guided biopsy
confirmed poorly differentiated adenocarcinoma in the duodenum, while a
subsequent gastric examination revealed well-differentiated
adenocarcinoma, suggesting dual malignancies. The patient underwent
neoadjuvant chemotherapy, followed by pancreatoduodenectomy with distal
gastrectomy. The CUP was staged as poorly differentiated adenocarcinoma
(pStage IVB), while the gastric cancer as well-differentiated
adenocarcinoma (pStage IA). Despite adjuvant TS-1 therapy, lymph node
metastasis near the superior mesenteric artery continued to progress.
CGP revealed high microsatellite instability and a high tumor mutational
burden, along with multiple actionable genetic mutations. Pembrolizumab
monotherapy was initiated, leading to complete remission, with no
recurrence observed at one year after treatment cessation. Genetic and
immunohistochemical investigations have identified microsatellite
instability in both CUP and gastric cancer tissues, suggesting a shared
origin. Targeted gene sequencing confirmed common genetic variations,
ultimately revealing that the CUP originated from gastric cancer cells.
Conclusion: This case highlights the critical role of CGP in the
diagnosis and treatment of CUP. The use of advanced molecular
techniques, including NGS, revealed the gastric origin of CUP and
identified actionable biomarkers, leading to successful treatment with
immune checkpoint inhibitors.