NEUROFIBROMATOSIS TYPE 1 WITH PLEXIFORM NEUROFIBROMA OF THE HEAD AND NECK: SIX YEARS OF CONTINUOUS TRAMETINIB THERAPY
DOI:
https://doi.org/10.52340/jecm.2026.03.07Keywords:
Trametinib, Neurofibromatosis, Plexiform Neurofibroma, Clinical CaseAbstract
Following six years of continuous maintenance therapy with Trametinib (0.5 mg once daily), the volume of the head and neck mass decreased by 82.8%—from a baseline of 161.2 mL to 27.79 mL—as confirmed by the most recent magnetic resonance imaging (MRI) scan performed in May 2026.
The drug demonstrated a favorable clinical response profile. Observed adverse effects—epistaxis, hematuria, paronychia, and mucositis—were consistent with the known safety profile of the MEK inhibitor class. These adverse effects occurred during the first year of treatment and were managed without requiring dose reduction, treatment interruption, or the use of supportive medications. By the fifth year of treatment, the symptoms had become so infrequent that the family discontinued keeping systematic diary records. The only persistent laboratory abnormality was an asymptomatic elevation in creatine kinase, which was not associated with muscular symptoms or renal function impairment. Cardiovascular and ophthalmological monitoring was performed. No slowing of the growth rate was observed during this period.
A sustained, satisfactory clinical response was achieved with six years of prospective treatment with Trametinib.
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