Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene - Takeaways - MDSpire

Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene

  • By

  • Zhannat Idrissova

  • Madina Orazgaliyeva

  • Kristina Kovaleva

  • Zhanel Seilkhanova

  • Farida Rakhimbekova

  • Madina Zhaksybek

  • Dariga Myrzamuratova

  • June 4, 2026

  • 0 min

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  • 1

    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder linked to mutations in the NF1 gene, including exon deletions.

  • 2

    Plexiform neurofibromas occur in up to 30% of NF1 patients and can lead to malignant transformation, particularly in large lesions.

  • 3

    The case study presents a 23-year-old male with a giant plexiform neurofibroma in the liver, confirmed by genetic testing showing NF1 exon deletion.

  • 4

    Imaging revealed a multinodular lesion in the hepatic hilum, extending around vital structures, making surgical intervention unfeasible.

  • 5

    Targeted therapy with the MEK inhibitor selumetinib was indicated due to the lesion's inoperable location and associated risks.

Original Source(s)

Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene

  • by Zhannat Idrissova, Madina Orazgaliyeva, Kristina Kovaleva, Zhanel Seilkhanova, Farida Rakhimbekova, Madina Zhaksybek, Dariga Myrzamuratova

  • June 4, 2026

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