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: Yaxuan Liu, Liang liang Yang, Wen teng Hu, Rui jiang Lin, Song la Bai, Min jie Ma, Biao Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Oncology
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Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2025.1625668/full
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author Yaxuan Liu
Yaxuan Liu
Liang liang Yang
Wen teng Hu
Rui jiang Lin
Song la Bai
Song la Bai
Min jie Ma
Min jie Ma
Min jie Ma
Min jie Ma
Biao Han
Biao Han
Biao Han
Biao Han
author_facet Yaxuan Liu
Yaxuan Liu
Liang liang Yang
Wen teng Hu
Rui jiang Lin
Song la Bai
Song la Bai
Min jie Ma
Min jie Ma
Min jie Ma
Min jie Ma
Biao Han
Biao Han
Biao Han
Biao Han
author_sort Yaxuan Liu
collection DOAJ
description 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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institution Kabale University
issn 2234-943X
language English
publishDate 2025-07-01
publisher Frontiers Media S.A.
record_format Article
series Frontiers in Oncology
spelling doaj-art-51a354b78f9b4c469c9976bb49c607082025-08-20T03:28:55ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-07-011510.3389/fonc.2025.16256681625668Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case reportYaxuan Liu0Yaxuan Liu1Liang liang Yang2Wen teng Hu3Rui jiang Lin4Song la Bai5Song la Bai6Min jie Ma7Min jie Ma8Min jie Ma9Min jie Ma10Biao Han11Biao Han12Biao Han13Biao Han14Department of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe First Clinical Medical College of Lanzhou University, Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe First Clinical Medical College of Lanzhou University, Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe First Clinical Medical College of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe International Science and Technology Cooperation Base for Development and Application of Key Technologies in Thoracic Surgery, Lanzhou, ChinaControl Center of Thoracic Surgery of Gansu Province, The First Hospital of Lanzhou University, Lanzhou, ChinaDepartment of Thoracic Surgery, The First Hospital of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe First Clinical Medical College of Lanzhou University, Lanzhou University, Lanzhou, ChinaThe International Science and Technology Cooperation Base for Development and Application of Key Technologies in Thoracic Surgery, Lanzhou, ChinaControl Center of Thoracic Surgery of Gansu Province, The First Hospital of Lanzhou University, Lanzhou, ChinaCancer 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.https://www.frontiersin.org/articles/10.3389/fonc.2025.1625668/fullcancer of unknown primarymediastinal metastasisgastrointestinal immunophenotypesolitary metastasisdiagnostic biomarkersliquid biopsy
spellingShingle Yaxuan Liu
Yaxuan Liu
Liang liang Yang
Wen teng Hu
Rui jiang Lin
Song la Bai
Song la Bai
Min jie Ma
Min jie Ma
Min jie Ma
Min jie Ma
Biao Han
Biao Han
Biao Han
Biao Han
Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
Frontiers in Oncology
cancer of unknown primary
mediastinal metastasis
gastrointestinal immunophenotype
solitary metastasis
diagnostic biomarkers
liquid biopsy
title Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
title_full Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
title_fullStr Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
title_full_unstemmed Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
title_short Metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions: a case report
title_sort metastatic mediastinal malignant tumors of gastrointestinal origin with occult primary lesions a case report
topic cancer of unknown primary
mediastinal metastasis
gastrointestinal immunophenotype
solitary metastasis
diagnostic biomarkers
liquid biopsy
url https://www.frontiersin.org/articles/10.3389/fonc.2025.1625668/full
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