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  • Metastatic malignant peripheral nerve sheath tumour in a patient with neurofibromatosis 1 and review of contemporary systemic treatments

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Case Reports: Rare disease
Metastatic malignant peripheral nerve sheath tumour in a patient with neurofibromatosis 1 and review of contemporary systemic treatments
  1. Keegan Hones1,
  2. Urszula Krekora2,
  3. Elham Nasri3 and
  4. Ellery Altshuler4
  1. 1College of Medicine, University of Florida, Gainesville, Florida, USA
  2. 2College of Medicine, University of Central Florida, Orlando, Florida, USA
  3. 3Department of Pathology, Immunology and Laboratory Health, University of Florida Health, Gainesville, Florida, USA
  4. 4Internal Medicine, University of Florida, Gainesville, Florida, USA
  1. Correspondence to Mr Keegan Hones; khones{at}ufl.edu

Abstract

Malignant peripheral nerve sheath tumours are rare soft tissue sarcomas commonly seen in patients with neurofibromatosis type 1. They typically manifest in the fibrous sheaths of major nerve trunks in the extremities or in an axial location. Presenting symptoms are generally non-specific, including pain and weakness, and survival is dependent on size and location of the tumour. Surgical resection is the primary treatment modality followed by radiotherapy or chemotherapy; however, prognosis is poor. Medications such as tyrosine kinase inhibitors and mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK) pathway inhibitors are increasingly being recognised as potentially effective therapy for these malignancies. We report a case of a patient with neurofibromatosis type 1 presenting with a malignant peripheral nerve sheath tumour along the tibial nerve that was initially diagnosed as a muscle strain. We discuss the utility of diagnostic imaging and pathology in correctly identifying this aggressive tumour as well as review the drugs used in her care.

  • Cancer intervention
  • Drugs and medicines
  • Oncology

https://doi.org/10.1136/bcr-2022-250462

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    Footnotes

    • Contributors KH conceived of the idea for the case report and was primarily responsible for writing the manuscript. UK helped with background research and assisted with writing the manuscript. EN contributed subject matter expertise and background. EA assisted with writing the manuscript, provided subject matter expertise and is responsible for its final content.

    • 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.