# Cerebral Metastasis of a Gastrointestinal Stromal Tumor: A Case Report and Literature Review

**Authors:** Diogo D Lopes, Renato Pereira, Elisabete Couto, Diana Freitas, Ana Daniela Marques

PMC · DOI: 10.7759/cureus.85857 · Cureus · 2025-06-12

## TL;DR

This paper reports a rare case of a gastrointestinal stromal tumor spreading to the brain and highlights the challenges in treating such metastases.

## Contribution

The paper adds to the limited literature on central nervous system metastases from GIST and emphasizes the need for therapies that can cross the blood-brain barrier.

## Key findings

- Cerebral metastasis from GIST is rare and associated with poor prognosis.
- Current tyrosine kinase inhibitors have poor penetration into the central nervous system.
- Surgical and radiological interventions offer only temporary relief for CNS metastases.

## Abstract

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms originating from the gastrointestinal tract. These tumors frequently harbor activating mutations in the receptor tyrosine kinase (KIT) or in the platelet-derived growth factor receptor alpha (PDGFRA) gene, which guide treatment with tyrosine kinase inhibitors (TKIs). Although GISTs commonly metastasize to the liver and peritoneum, involvement of the central nervous system (CNS) is exceptionally uncommon.

We report a case of a 58-year-old male with metastatic gastric GIST, treated with imatinib, followed by sunitinib and regorafenib, between October 2021 and December 2023, when he presented with sudden visual disturbances and a transient loss of consciousness. Imaging revealed a large extra-axial lesion in the right frontal region adjacent to a lytic bone lesion. Craniotomy and histopathology confirmed cerebral metastasis from GIST. The patient underwent cranial radiotherapy and was proposed for treatment with ripretinib, but treatment was not initiated due to clinical deterioration. He passed away in March 2024.

CNS metastasis from GISTs is a rare phenomenon. Most cases occur in the context of advanced disease and carry a poor prognosis. This case underscores the absence of effective systemic treatments for CNS disease, as most TKIs, including imatinib and ripretinib, have poor CNS penetration. Surgical resection and radiotherapy provide symptomatic relief but are not curative. This case highlights the need for novel therapeutic approaches targeting CNS metastases and further exploration of molecular mechanisms that enable atypical metastatic spread.

This report contributes to the sparse literature on CNS involvement in GIST, emphasizing the need for a multidisciplinary approach and the development of therapies that can penetrate the blood-brain barrier (BBB) to improve outcomes in patients with advanced GIST.

## Linked entities

- **Genes:** KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815], PDGFRA (platelet derived growth factor receptor alpha) [NCBI Gene 5156]
- **Chemicals:** imatinib (PubChem CID 5291), sunitinib (PubChem CID 5329102), regorafenib (PubChem CID 11167602), ripretinib (PubChem CID 71584930)
- **Diseases:** Gastrointestinal stromal tumor (MONDO:0011719)

## Full-text entities

- **Genes:** KIT (KIT proto-oncogene, receptor tyrosine kinase) [NCBI Gene 3815] {aka C-Kit, CD117, MASTC, PBT, SCFR}, PDGFRA (platelet derived growth factor receptor alpha) [NCBI Gene 5156] {aka CD140A, PDGFR-2, PDGFR2}, RET (ret proto-oncogene) [NCBI Gene 5979] {aka CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1}
- **Diseases:** visual disturbances (MESH:D014786), loss of consciousness (MESH:D014474), GIST (MESH:D046152), mesenchymal neoplasms (MESH:D009369), Cerebral Metastasis (MESH:D009362), lytic bone lesion (MESH:D001847)
- **Chemicals:** sunitinib (MESH:D000077210), ripretinib (MESH:C000707850), imatinib (MESH:D000068877), regorafenib (MESH:C559147)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12255365/full.md

## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12255365/full.md

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Source: https://tomesphere.com/paper/PMC12255365