# Tumor Mutational Burden–High Intrahepatic Cholangiocarcinoma Presenting with Solitary Brain Metastasis: A Case of Precision Oncology

**Authors:** Takahiro Maehata, Yuta Ushida, Gen Sugawara, Yoriko Yamashita, Masaya Inoue

PMC · DOI: 10.70352/scrj.cr.25-0620 · 2026-01-08

## TL;DR

A rare case of brain metastasis from intrahepatic cholangiocarcinoma was successfully treated using a combination of surgery and immunotherapy guided by genomic profiling.

## Contribution

This case highlights the potential of tumor mutational burden as a predictive biomarker for immunotherapy in intrahepatic cholangiocarcinoma.

## Key findings

- A multimodal approach combining surgery and immunotherapy led to a favorable outcome in a patient with ICC brain metastasis.
- High tumor mutational burden was identified as a key biomarker guiding treatment decisions.
- The patient remained disease-free for 8 months following treatment.

## Abstract

Brain metastasis from intrahepatic cholangiocarcinoma (ICC) is a rare condition with a poor prognosis, and no standard treatment has been established. This report aims to present a case of solitary ICC brain metastasis successfully treated with a multimodal approach guided by comprehensive genomic profiling (CGP).

A 64-year-old man, who had undergone a left hepatectomy for ICC 15 months prior, presented with recent memory difficulties. A brain MRI revealed a solitary 39-mm ring-enhancing mass in the left temporal lobe. The patient underwent surgical resection of the brain tumor, and histological examination confirmed the lesion was a metastasis from the primary ICC. Postoperatively, he received systemic therapy consisting of gemcitabine, cisplatin, and durvalumab. CGP on the resected brain specimen revealed a high tumor mutational burden status (23 mutations/Mb) and microsatellite stability. At the 8-month follow-up after the craniotomy, the patient remains disease-free with no signs of recurrence.

This case suggests that an integrated approach, combining aggressive local therapy with systemic immunotherapy informed by biomarkers, can achieve a favorable outcome in selected patients with ICC. The identification of a high tumor mutational burden was crucial in guiding treatment and supports its potential as a predictive biomarker. This precision oncology strategy may improve the poor prognosis associated with this condition.

## Linked entities

- **Chemicals:** gemcitabine (PubChem CID 60750), cisplatin (PubChem CID 5460033)
- **Diseases:** intrahepatic cholangiocarcinoma (MONDO:0003210)

## Full-text entities

- **Diseases:** Brain Metastasis (MESH:D009362), ICC (MESH:D018281), brain tumor (MESH:D001932), Tumor (MESH:D009369)
- **Chemicals:** cisplatin (MESH:D002945), gemcitabine (MESH:D000093542), durvalumab (MESH:C000613593)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12796947/full.md

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Source: https://tomesphere.com/paper/PMC12796947