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CASE REPORT article

Front. Oncol.
Sec. Gastrointestinal Cancers: Colorectal Cancer
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1512000
This article is part of the Research Topic Mutational Landscape of Signaling Pathways Involved in Late- and Young-Onset Colorectal Cancer Progression View all 5 articles

Case Report: A rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland

Provisionally accepted
Aristeidis E. Boukouris Aristeidis E. Boukouris 1Ioannis Kokkinakis Ioannis Kokkinakis 2*Elias Drakos Elias Drakos 2*Maria Sfakianaki Maria Sfakianaki 3*Maria Tzardi Maria Tzardi 2*Dimitrios Mavroudis Dimitrios Mavroudis 1,3*John Souglakos John Souglakos 1,3*
  • 1 Department of Oncology, University Hospital of Heraklion, Heraklion, Greece
  • 2 Department of Pathology, University Hospital of Heraklion, Crete, Greece, Heraklion, Greece
  • 3 Laboratory of Translational Oncology, Medical School, University of Crete, Heraklion, Greece

The final, formatted version of the article will be published soon.

    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.

    Keywords: case report, colorectal cancer, BRAF V600E mutation, skin disease, parotid gland infiltration, fulminant metastatic behavior

    Received: 15 Oct 2024; Accepted: 10 Jan 2025.

    Copyright: © 2025 Boukouris, Kokkinakis, Drakos, Sfakianaki, Tzardi, Mavroudis and Souglakos. 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:
    Ioannis Kokkinakis, Department of Pathology, University Hospital of Heraklion, Crete, Greece, Heraklion, Greece
    Elias Drakos, Department of Pathology, University Hospital of Heraklion, Crete, Greece, Heraklion, Greece
    Maria Sfakianaki, Laboratory of Translational Oncology, Medical School, University of Crete, Heraklion, Greece
    Maria Tzardi, Department of Pathology, University Hospital of Heraklion, Crete, Greece, Heraklion, Greece
    Dimitrios Mavroudis, Department of Oncology, University Hospital of Heraklion, Heraklion, Greece
    John Souglakos, Department of Oncology, University Hospital of Heraklion, Heraklion, Greece

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