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Updated: Jan 26, 2026

Predicting Treatment Response to Image-Guided Therapies Using Machine Learning: An Example for Trans-Arterial Treatment of Hepatocellular Carcinoma
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Predicting Treatment Response to Image-Guided Therapies Using Machine Learning: An Example for Trans-Arterial Treatment of Hepatocellular Carcinoma

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Urothelial carcinoma with an NRF1-BRAF rearrangement and response to targeted therapy

Alexandra L Isaacson1, Natalya V Guseva1, Aaron D Bossler1

  • 1Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.

Cold Spring Harbor Molecular Case Studies
|April 24, 2019
PubMed

Insights

A rare NRF1-BRAF fusion was identified in metastatic urothelial carcinoma. This finding offers potential new therapeutic targets for BRAF-rearranged cancers, including urothelial carcinoma.

Area of Science:

  • Oncology
  • Genetics

Background:

  • BRAF mutations are common in solid tumors, with well-documented responses to targeted therapies.
  • BRAF rearrangements are less frequent, primarily found in specific cancers like glioma and melanoma.

Observation:

  • A novel NRF1-BRAF fusion with unique breakpoints was detected in a patient with metastatic urothelial carcinoma (UC) of the renal pelvis.
  • This BRAF rearrangement has not been previously reported in UC.

Findings:

  • The patient showed an initial positive clinical response to trametinib, a second-generation MEK inhibitor.
  • The NRF1-BRAF fusion, previously reported only once in anaplastic pleomorphic xanthoastrocytoma, represents a rare genetic alteration.

Implications:

  • This case highlights the potential for MEK inhibitors in treating BRAF-rearranged urothelial carcinoma.
  • The identification of this rare fusion expands the understanding of BRAF alterations in cancer and suggests new therapeutic avenues.
Keywords:
neoplasm of the ureterrenal pelvic carcinoma

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