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Association of plexiform and diffuse neurofibromas with malignant peripheral nerve sheath tumor in NF I patients: a whole-body MRI assessment

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Abstract

Objective

The aim of this study is to evaluate neurofibromatosis type 1 (NF1) patients with whole-body MRI (WBMRI) to investigate the frequency of plexiform neurofibromas (pNFs), diffuse neurofibromas (dNFs), and malignant peripheral nerve sheath tumors (MPNSTs).

Materials and methods

In this retrospective cross-sectional study, between the years 2015 and 2023, 83 consecutive patients with known NF1 underwent a total of 110 WBMRI screenings for MPNST using a standardized institutional protocol. The lesions are categorized as discrete lesions, pNFs, dNFs, and MPNSTs. Histopathology served as the reference standard for all MPNSTs.

Results

Among the 83 patients analyzed, 53 (64%) were women and 30 were men (36%) of ages 36.94±14.43 years (range, 15–66 years). Of the 83 patients, 33 have a positive family history of NF1 and positive genetic studies. Seven of 83 (8%) have only dNF, 20/83 (24%) have pNF, 28/83 (34%) have both dNF and pNF, and 28/83 (34%) have neither. Of the 83 patients, eight (9.6%) were diagnosed with nine total MPNSTs. Age range for patients with MPNSTs at time of diagnosis was 22–51, with an average age of 33.4 years. Only one MPNST (11%) developed from underlying pNF 4 years after WBMRI along the right bronchial tree. Three of eight (37.5%) patients with MPNST died within 5 years of pathologic diagnosis.

Conclusion

This study suggests the absence of a predisposition for development of MPNST from pNFs and dNFs in the setting of NF1. As such, these lesions may not need special surveillance compared to discrete peripheral nerve sheath tumors.

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Funding

Avneesh Chhabra has received research grant from IBL, Inc. He receives royalties from Wolters and Jaypee Publishers and serves as a medical advisor for IBL, Inc.

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Authors and Affiliations

  1. Department of Radiology, UT Southwestern Medical Center, Dallas, TX, USA

    Sarah Attia, Mina Guirguis & Avneesh Chhabra

  2. Department of Dermatology, UT Southwestern Medical Center, Dallas, TX, USA

    Lu Q. Le

  3. Department of Orthopedic Surgery, UT Southwestern Medical Center, Dallas, TX, USA

    Avneesh Chhabra

  4. UT Southwestern, Dallas, TX, 75390-9178, USA

    Avneesh Chhabra

  5. Adjunct Faculty- Johns Hopkins University, Maryland, MD, USA

    Avneesh Chhabra

  6. Adjunct Faculty-University of Dallas, Richardson, TX, USA

    Avneesh Chhabra

  7. Walton Centre for Neuroscience, Liverpool, UK

    Avneesh Chhabra

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  1. Sarah Attia
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Correspondence to Avneesh Chhabra.

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Attia, S., Guirguis, M., Le, L.Q. et al. Association of plexiform and diffuse neurofibromas with malignant peripheral nerve sheath tumor in NF I patients: a whole-body MRI assessment. Skeletal Radiol 53, 769–777 (2024). https://doi.org/10.1007/s00256-023-04497-z

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