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

Alexandra L Isaacson; Natalya V Guseva; Aaron D Bossler; Deqin Ma

doi:10.1101/mcs.a003848

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

Journal article

Open access

Peer reviewed

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

Alexandra L Isaacson, Natalya V Guseva, Aaron D Bossler and Deqin Ma

Cold Spring Harbor molecular case studies, Vol.5(3), p.a003848

06/2019

DOI: 10.1101/mcs.a003848

PMCID: PMC6549557

PMID: 31010895

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Abstract

Although mutations are commonly identified in many solid tumors and the response of p.V600E-positive tumors to targeted therapy is well documented, rearrangements are less frequent and are predominantly found in low-grade glioma, melanoma, lung, colorectal, and thyroid carcinoma. Preclinical and clinical studies have demonstrated effectiveness of multiple therapies (RAF-targeted, ERK-targeted, or MEK-targeted) targeting -fusion harboring tumors. We report a rare fusion with novel breakpoints, identified by next-generation sequencing-based assay, from a 69-year-old man with metastatic urothelial carcinoma (UC) of the renal pelvis and his initial clinical response to a second-generation MEK inhibitor, trametinib, before stopping the medication because of adverse side effects. The fusion has only been reported in a single case of anaplastic pleomorphic xanthoastrocytoma, and rearrangement has never been reported in UC.

Kidney Neoplasms - genetics

Liver - pathology

Humans

Kidney Pelvis - pathology

Male

Carcinoma - diagnostic imaging

Nuclear Respiratory Factor 1 - genetics

Neoplasm Metastasis

Kidney Neoplasms - diagnostic imaging

Proto-Oncogene Proteins B-raf - genetics

Kidney Pelvis - diagnostic imaging

Carcinoma - genetics

Kidney Neoplasms - pathology

Aged

Carcinoma - pathology

Details

Title: Subtitle: Urothelial carcinoma with an NRF1-BRAF rearrangement and response to targeted therapy
Creators: Alexandra L Isaacson - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Natalya V Guseva - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Aaron D Bossler - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Deqin Ma - Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Resource Type: Journal article
Publication Details: Cold Spring Harbor molecular case studies, Vol.5(3), p.a003848
DOI: 10.1101/mcs.a003848
PMID: 31010895
PMCID: PMC6549557
NLM abbreviation: Cold Spring Harb Mol Case Stud
ISSN: 2373-2865
eISSN: 2373-2873
Publisher: United States
Grant note: P30 CA086862 / NCI NIH HHS
Language: English
Date published: 06/2019
Academic Unit: Pathology
Record Identifier: 9984047636902771

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