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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma
  1. Eunji Yim and
  2. Denise Leung
  1. Neurology, University of Michigan, Ann Arbor, Michigan, USA
  1. Correspondence to Dr Eunji Yim; yime{at}med.umich.edu

Abstract

Leptomeningeal disease is rare in pancreatic cancer and prognosis remains poor. Mutation profiles are now directing therapy to improve survival. We describe a case of leptomeningeal and brain metastasis in BRCA1 interacting protein 1, or BRIP1-mutated pancreatic adenocarcinoma with progression through several lines of chemotherapy and immunotherapy. A woman in her late 50s presented with metastatic pancreatic adenocarcinoma on liver biopsy. She achieved complete response after modified FOLFIRINOX and started a poly (ADP-ribose) polymerase (PARP) inhibitor for a BRIP1 mutation. She had recurrence at 9 months and started pembrolizumab (programmed cell death protein 1, or PD-1receptor antibody) for tumour mutational burden of 10 muts/Mb. At 10 months, she presented with lower extremity weakness and back pain. MRI revealed leptomeningeal metastases from T11 to cauda equina roots and right occipital metastasis. Cerebrospinal fluid studies revealed elevated pressure (290 mm H2O) and protein (73 mg/dL) with negative cytology. Leptomeningeal carcinomatosis was diagnosed. She began palliative radiation but died at 11 months from initial diagnosis.

  • Pancreatic cancer
  • CNS cancer
  • Genetics
  • Neurooncology

https://doi.org/10.1136/bcr-2022-249837

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    Footnotes

    • Twitter @DeniseLeungMD

    • Contributors EY: substantial contributions to the conception of the work, drafting the work. DL: substantial contributions to the conception of the work, revising it critically for important intellectual content. Both authors (EY, DL) gave final approval of the version published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • 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.