Identification of a Novel NRG1 Fusion with Targeted Therapeutic Implications in Locally Advanced Pediatric Cholangiocarcinoma: A Case Report

Abstract Locally advanced cholangiocarcinoma has a poor prognosis, with long-term survival only for patients where complete surgical resection is achieved. Median overall survival with chemotherapy alone is less than 1 year. Novel strategies combining conventional chemotherapy and radiotherapy follo...

Full description

Saved in:
Bibliographic Details
Published inCase reports in oncology Vol. 16; no. 1; pp. 255 - 261
Main Authors Mitchell, Sarah G., Basu, Gargi D., Eaton, Bree, Goodman, Laurie J., Goldsmith, Kelly C.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.2023
Karger Publishers
Subjects
Abdomen
Biopsy
Case Report
Case reports
Chemotherapy
Cholangiocarcinoma
Chromosomes
Clinical trials
Cytotoxicity
Disease
Drug dosages
Liver
Magnetic resonance imaging
Medical prognosis
nrg1 fusion
Patients
pediatric cholangiocarcinoma
Pediatrics
Precision medicine
Radiation therapy
Tomography
Tumors
Veins & arteries
Pediatric cholangiocarcinoma
Case report
NRG1 fusion
Precision medicine
Online AccessGet full text

Cover

More Information
Summary:Abstract Locally advanced cholangiocarcinoma has a poor prognosis, with long-term survival only for patients where complete surgical resection is achieved. Median overall survival with chemotherapy alone is less than 1 year. Novel strategies combining conventional chemotherapy and radiotherapy followed by targeted agents can lead to durable treatment responses and are applicable to cholangiocarcinoma management. Pediatric cholangiocarcinoma is exceedingly rare, with an estimate of 15–22 cases reported in the last 40 years. As such, no standard therapeutic regimen exists. We present a case of a 16-year-old previously healthy patient with unresectable cholangiocarcinoma whose tumor genetic sequencing revealed a novel, actionable neuregulin-1 (NRG1) gene translocation. The patient underwent standard systemic chemotherapy with gemcitabine and cisplatin followed by hypofractionated proton radiation therapy for local control. The patient then started an oral pan-ERBB (erythroblastic B receptor tyrosine kinases including ErbB1/EGFR, ErbB2/HER2, ErbB3/HER3, ErbB4/HER4) family inhibitor as a maintenance medication, remaining with stable disease and excellent quality of life for over 2 years. This case highlights a novel NRG1 fusion in a rare clinical entity that provided an opportunity to utilize a multimodal therapeutic strategy in the pediatric setting.
ISSN:1662-6575
1662-6575
DOI:10.1159/000530164