Clinical Pearls for Oncologists and Neurologists: Comprehensive Care for Patients with Neurofibromatosis Type 1 Across the Lifespan
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Jill, a 29-year-old with a history of café au lait spots and axillary freckling and a slowly growing mass on her upper back presents to your clinic for progressive symptoms. Which of the following features is most commonly seen with symptomatic PNs in adults with NF1?
Leg length discrepancy
Hypertension
Vision loss
Pain and disfigurement
Skin discoloration
Wendy, a 5-year old with NF1, has progressive PN with pain and major deformity. You are considering starting her on mirdametinib oral suspension. According to the ReNeu study, all of the following outcomes observed with mirdametinib in NF1-PN patients are accurate EXCEPTÂ
Median time to onset of confirmed response was 7.9 months in children
Most common treatment-related adverse events were dermatitis acneiform, diarrhea, and paronychia in children
Deep PN volume reductions (>50% from baseline) observed in children but not in adults
Significantly longer progression-free survival in children with progressive disease compared with historical controls
Holly, a 6-year-old patient on selumetinib for NF1-PN develops grade 3 acneiform rash and diarrhea. What would be the next best steps based on current clinical practice recommendations?
Hold selumetinib until improvement to grade 1 or resolution with supportive care before resuming at reduced dose
Continue full dose and provide supportive care
Discontinue selumetinib
Switch to mirdametinib
An 18-year-old patient with NF1-PN presents with a growing orbital PN, hypertension, and increased facial disfigurement. In addition to being very anxious about her looks, she is also concerned about malignant transformation of the PN. Which care plan is most beneficial for optimizing long-term outcomes in this patient?
Coordination between her neurologist and surgeon to discuss surgical resection
Coordinated care between an oncologist, ophthalmologist, surgeon, neurologist, and psychologist, with a work-up for hypertension
Referral to an oncologist and genetist for a workup on the risk for malignant transformation
Referral to a cardiologist for managing hypertension
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