Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
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 ex...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1625668/full |
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| Summary: | 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. |
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| ISSN: | 2234-943X |