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Case Reports: Learning from unexpected outcome (positive or negative)
Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX
  1. Leticia Estefania Campoverde1,
  2. Felipe Batalini2,
  3. Yarab Bulushi3 and
  4. Andrea Bullock4
  1. 1Internal Medicine, University of Miami Health System, Miami, Florida, USA
  2. 2Oncology, Mayo Clinic Arizona, Scottsdale, Arizona, USA
  3. 3Radiology, Stanford University, Stanford, California, USA
  4. 4Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
  1. Correspondence to Dr Leticia Estefania Campoverde; lec160{at}miami.edu

Abstract

A woman in her 50s previously treated for early-stage breast cancer, parotid mucoepidermoid carcinoma and Caroli’s disease was diagnosed with stage IV pancreatic ductal adenocarcinoma (PDAC) metastatic to the liver and was found to harbour a BRCA1 germline mutation. She had palliative chemotherapy, initially with 5-fluorouracil, leucovorin, irinotecan and oxaliplatin, and then FOLFIRI and capecitabine, achieving a sustained near-complete response for at least 86 months. Chemotherapy was eventually discontinued when she was diagnosed with a tongue squamous cell carcinoma. Despite withholding systemic therapy, she has maintained a durable response. This is the first report in the English literature showing a sustained duration of response in a patient with PDAC and BRCA1 germline mutation.

  • Cancer intervention
  • Genetic screening / counselling
  • Pancreatic cancer

http://dx.doi.org/10.1136/bcr-2022-249370

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    Footnotes

    • Contributors LEC, FB and AB wrote this case report. AB is the principal investigator of this case report. YB prepared the images and discussion of response.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.