Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland
Metastastic disease affects up to 50% of colorectal cancer (CRC) patients and is associated with particularly poor outcomes in the presence of the BRAF V600E mutation. Herein, we report a patient with initial diagnosis of stage IIIc CRC, who presented during follow-up (adjuvant phase) with dysphagia...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1512000/full |
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| author | Aristeidis E. Boukouris Ioannis Kokkinakis Elias Drakos Maria Sfakianaki Maria Tzardi Dimitrios Mavroudis Dimitrios Mavroudis John Souglakos John Souglakos |
| author_facet | Aristeidis E. Boukouris Ioannis Kokkinakis Elias Drakos Maria Sfakianaki Maria Tzardi Dimitrios Mavroudis Dimitrios Mavroudis John Souglakos John Souglakos |
| author_sort | Aristeidis E. Boukouris |
| collection | DOAJ |
| description | Metastastic disease affects up to 50% of colorectal cancer (CRC) patients and is associated with particularly poor outcomes in the presence of the BRAF V600E mutation. Herein, we report a patient with initial diagnosis of stage IIIc CRC, who presented during follow-up (adjuvant phase) with dysphagia, left-sided lagophthalmos and multiple skin nodules. The ensuing work-up revealed disseminated metastatic disease from the primary CRC, which was BRAF V600E-mutated (retrospective tissue analysis), affecting, besides the lungs, multiple uncommon sites, such as the skin and parotid gland. The patient’s rapid disease progression did not allow for any therapeutic interventions. This is only the second report of concomitant metastatic infiltration of the skin and parotid gland by CRC, and the first with a documented molecular background of BRAF V600E mutation. BRAF V600E-mutated CRC can follow an aggressive and often unpredictable clinical course in the metastatic setting that physicians should be aware of, and the molecular profile of the tumor at diagnosis could be useful for comprehensive and timely management. |
| format | Article |
| id | doaj-art-f6cdd8b1d45045f58bdb72498d5aff06 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Oncology |
| spelling | doaj-art-f6cdd8b1d45045f58bdb72498d5aff062025-01-28T05:10:38ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-01-011510.3389/fonc.2025.15120001512000Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid glandAristeidis E. Boukouris0Ioannis Kokkinakis1Elias Drakos2Maria Sfakianaki3Maria Tzardi4Dimitrios Mavroudis5Dimitrios Mavroudis6John Souglakos7John Souglakos8Department of Medical Oncology, University General Hospital of Heraklion, Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, Medical School, University of Crete, Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, Medical School, University of Crete, Heraklion, GreeceLaboratory of Translational Oncology, Medical School, University of Crete, Heraklion, GreeceDepartment of Pathology, University General Hospital of Heraklion, Medical School, University of Crete, Heraklion, GreeceDepartment of Medical Oncology, University General Hospital of Heraklion, Heraklion, GreeceLaboratory of Translational Oncology, Medical School, University of Crete, Heraklion, GreeceDepartment of Medical Oncology, University General Hospital of Heraklion, Heraklion, GreeceLaboratory of Translational Oncology, Medical School, University of Crete, Heraklion, GreeceMetastastic disease affects up to 50% of colorectal cancer (CRC) patients and is associated with particularly poor outcomes in the presence of the BRAF V600E mutation. Herein, we report a patient with initial diagnosis of stage IIIc CRC, who presented during follow-up (adjuvant phase) with dysphagia, left-sided lagophthalmos and multiple skin nodules. The ensuing work-up revealed disseminated metastatic disease from the primary CRC, which was BRAF V600E-mutated (retrospective tissue analysis), affecting, besides the lungs, multiple uncommon sites, such as the skin and parotid gland. The patient’s rapid disease progression did not allow for any therapeutic interventions. This is only the second report of concomitant metastatic infiltration of the skin and parotid gland by CRC, and the first with a documented molecular background of BRAF V600E mutation. BRAF V600E-mutated CRC can follow an aggressive and often unpredictable clinical course in the metastatic setting that physicians should be aware of, and the molecular profile of the tumor at diagnosis could be useful for comprehensive and timely management.https://www.frontiersin.org/articles/10.3389/fonc.2025.1512000/fullcase reportcolorectal cancerBRAF V600E mutationskin diseaseparotid gland infiltrationfulminant metastatic behavior |
| spellingShingle | Aristeidis E. Boukouris Ioannis Kokkinakis Elias Drakos Maria Sfakianaki Maria Tzardi Dimitrios Mavroudis Dimitrios Mavroudis John Souglakos John Souglakos Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland Frontiers in Oncology case report colorectal cancer BRAF V600E mutation skin disease parotid gland infiltration fulminant metastatic behavior |
| title | Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| title_full | Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| title_fullStr | Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| title_full_unstemmed | Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| title_short | Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| title_sort | case report a rare case of diffusely metastatic braf v600e mutated colorectal cancer with concomitant infiltration of the skin and parotid gland |
| topic | case report colorectal cancer BRAF V600E mutation skin disease parotid gland infiltration fulminant metastatic behavior |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1512000/full |
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