To present a rare clinical case of a large plexiform neurofibroma in neurofibromatosis type 1, emphasizing the significance of genetic findings and their implications for treatment.
Key Findings:
Plexiform neurofibromas are observed in up to 30% of NF1 patients and can undergo malignant transformation.
The patient exhibited extensive plexiform neurofibromas involving the hepatic hilum and surrounding vessels.
Genetic testing revealed a deletion of the first exon of the NF1 gene.
Interpretation:
The case highlights the importance of monitoring and early initiation of targeted therapy in NF1 patients with extensive plexiform neurofibromas.
Limitations:
The case is a single patient report, limiting generalizability.
Long-term outcomes of the targeted therapy are not yet available.
Conclusion:
The case underscores the need for careful monitoring in NF1 patients with significant plexiform neurofibromas.
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