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Successful Identification and Treatment of Cancer of Unknown Primary Originating from Gastric Cancer Using Comprehensive Genomic Profiling and Immune Checkpoint Inhibitor Therapy
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  • Takahiro Sasaki,
  • Sayaka Yuzawa,
  • Hiroki Tanabe,
  • Yusuke Ono,
  • Keitaro Takahashi,
  • Katsuyoshi Ando,
  • Nobuhiro Ueno,
  • Shin Kashima,
  • Kentaro Moriichi,
  • Mishie Tanino,
  • Yusuke Mizukami,
  • Mikihiro Fujiya
Takahiro Sasaki
Asahikawa Ika Daigaku
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Sayaka Yuzawa
Asahikawa Ika Daigaku
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Hiroki Tanabe
Asahikawa Ika Daigaku

Corresponding Author:[email protected]

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Yusuke Ono
Sapporo Higashi Tokushukai Byoin
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Keitaro Takahashi
Asahikawa Ika Daigaku
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Katsuyoshi Ando
Asahikawa Ika Daigaku
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Nobuhiro Ueno
Asahikawa Ika Daigaku
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Shin Kashima
Asahikawa Ika Daigaku
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Kentaro Moriichi
Asahikawa Ika Daigaku
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Mishie Tanino
Asahikawa Ika Daigaku
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Yusuke Mizukami
Asahikawa Ika Daigaku
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Mikihiro Fujiya
Asahikawa Ika Daigaku
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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.
25 Nov 2024Submitted to Cancer Reports
26 Nov 2024Submission Checks Completed
26 Nov 2024Assigned to Editor
26 Nov 2024Review(s) Completed, Editorial Evaluation Pending
29 Nov 2024Reviewer(s) Assigned