Identification of a novel NRG1 fusion with targeted therapeutic
implications in locally advanced pediatric cholangiocarcinoma
- Sarah Mitchell,
- Gargi Basu,
- Laurie Goodman,
- Kelly Goldsmith
Sarah Mitchell
Emory University / Children's Healthcare of Atlanta
Author ProfileKelly Goldsmith
Children's Healthcare of Atlanta
Corresponding Author:kgoldsm@emory.edu
Author ProfileAbstract
Locally advanced cholangiocarcinoma has a poor prognosis, with long-term
survival observed only in patients where complete surgical resection is
achieved. Pediatric cholangiocarcinoma is exceedingly rare, with an
estimated 15-22 cases reported in the last 40 years. As such, no
standard therapeutic regimen exists. Novel strategies combining
conventional chemotherapy and radiotherapy followed by targeted agents
can lead to durable treatment responses and are applicable to pediatric
cholangiocarcinoma management. We present a case of a 17-year-old
patient with unresectable cholangiocarcinoma whose tumor genetic
sequencing revealed a novel, actionable NRG1 translocation, providing an
opportunity to utilize combination treatment in the pediatric setting.