CASE REPORT article
Front. Oncol.
Sec. Gastrointestinal Cancers: Gastric and Esophageal Cancers
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1625668
Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: A case report
Provisionally accepted
- 1Lanzhou University Medical College, Lanzhou, China
- 2The First Hospital of Lanzhou University, Lanzhou, China
- 3The First Clinical Medical College of Lanzhou University, Lanzhou, China
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Cancer of unknown primary origin (CUP), accounting for 3-5% of malignancies, poses significant diagnostic challenges because of the absence of identifiable primary lesions. While common occult primary tumors involve the lung or pancreas, gastrointestinal (GI)-originated mediastinal metastases are exceedingly rare. A 54-year-old male presented with chest tightness and dyspnea. Imaging revealed a 45.5 × 36.3 mm anterior mediastinal mass. Pathological evaluation postresection revealed metastatic moderately differentiated adenocarcinoma with immunohistochemical (IHC) features (CK20+/Villin+/CK7-/TTF-1-) suggestive of GI origin.Despite comprehensive evaluations (gastroscopy, PET-CT), no primary lesions were detected.Chronic atrophic gastritis (C2) was noted, but malignancy was excluded. This case underscores the diagnostic complexity of GI-profile mediastinal CUP and highlights limitations in conventional imaging. Molecular profiling (e.g., KRAS/NRAS/BRAF mutation) and advanced diagnostics (ctDNA analysis) are critical for accurate classification and tailored therapy. Long-term surveillance remains essential, as 12% of CUPs reveal primaries during follow-up.
Keywords: Cancer of unknown primary, Mediastinal metastasis, Gastrointestinal immunophenotype, Solitary metastasis, diagnostic biomarkers, liquid biopsy
Received: 09 May 2025; Accepted: 25 Jun 2025.
Copyright: © 2025 Liu, Yang, Hu, Lin, Bai, Ma and Han. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Minjie Ma, The First Hospital of Lanzhou University, Lanzhou, China
Biao Han, The First Hospital of Lanzhou University, Lanzhou, China
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