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

**Authors:** Aristeidis E. Boukouris, Ioannis Kokkinakis, Elias Drakos, Maria Sfakianaki, Maria Tzardi, Dimitrios Mavroudis, John Souglakos

PMC · DOI: 10.3389/fonc.2025.1512000 · Frontiers in Oncology · 2025-01-28

## TL;DR

This case report describes a rare and aggressive form of colorectal cancer with BRAF V600E mutation that spread to the skin and parotid gland.

## Contribution

The first documented case of BRAF V600E-mutated CRC with simultaneous skin and parotid gland metastases.

## Key findings

- The patient had BRAF V600E-mutated CRC that metastasized to uncommon sites like the skin and parotid gland.
- This case highlights the aggressive and unpredictable nature of BRAF V600E-mutated CRC in the metastatic setting.
- It is the second reported case of CRC with concomitant skin and parotid gland infiltration.

## Abstract

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.

## Linked entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673]
- **Diseases:** colorectal cancer (MONDO:0005575), CRC (MONDO:0005575)

## Full-text entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}
- **Diseases:** Metastastic disease (MESH:D004194), CRC (MESH:D015179), dysphagia (MESH:D003680), lagophthalmos (MESH:D000092164), tumor (MESH:D009369), nodules (MESH:D016606)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** V600E

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11810719/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11810719/full.md

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Source: https://tomesphere.com/paper/PMC11810719