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Identification of a novel NRG1 fusion with targeted therapeutic implications in locally advanced pediatric cholangiocarcinoma
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  • Sarah Mitchell,
  • Gargi Basu,
  • Laurie Goodman,
  • Kelly Goldsmith
Sarah Mitchell
Emory University / Children's Healthcare of Atlanta
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Gargi Basu
Ashion Analytics
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Laurie Goodman
Ashion Analytics
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Kelly Goldsmith
Children's Healthcare of Atlanta

Corresponding Author:[email protected]

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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.