Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene
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By
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Zhannat Idrissova
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Madina Orazgaliyeva
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Kristina Kovaleva
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Zhanel Seilkhanova
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Farida Rakhimbekova
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Madina Zhaksybek
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Dariga Myrzamuratova
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June 4, 2026
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Clinical Scorecard: Clinical Case Study: A Giant Plexiform Neurofibroma of the Liver in a Patient with Exon 1 Deletion of the NF1 Gene
At a Glance
| Category | Detail |
|---|
| Condition | Neurofibromatosis type 1 (NF1) with plexiform neurofibroma |
| Key Mechanisms | Mutations in the NF1 gene, including exon deletions, leading to plexiform neurofibromas and risk of malignant transformation |
| Target Population | Adolescent males with NF1 and large NF1 gene deletions |
| Care Setting | Oncology and genetic testing clinics |
Key Highlights
- Plexiform neurofibromas occur in up to 30% of NF1 patients and can be detected in 50% via MRI.
- The patient presented with multiple café-au-lait macules, cutaneous neurofibromas, and headaches.
- Imaging revealed a multinodular lesion in the liver involving major vascular structures.
- Genetic testing confirmed a large deletion of an exon in the NF1 gene.
- Targeted therapy with MEK inhibitor selumetinib was indicated due to inoperable lesion location.
Guideline-Based Recommendations
Diagnosis
- Utilize genetic testing (MLPA method) to confirm NF1 gene mutations.
- Conduct imaging studies (MRI, CT) to assess the extent of plexiform neurofibromas.
Management
- Consider targeted therapy with MEK inhibitors for inoperable plexiform neurofibromas.
Monitoring & Follow-up
- Regular imaging and clinical evaluations to monitor for malignant transformation.
Risks
- Increased risk of malignant peripheral nerve sheath tumors (MPNST) from large plexiform neurofibromas.
Patient & Prescribing Data
Adolescents with NF1 and significant plexiform neurofibromas.
Selumetinib is indicated for patients with inoperable plexiform neurofibromas.
Clinical Best Practices
- Early diagnosis and monitoring of NF1 patients for plexiform neurofibromas.
- Initiate targeted therapy promptly in cases of extensive neurofibromas.
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