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Chapter 120: Neurofibromatosis Type 1

Bahir Chamseddin; Lu Q. Le

NEUROFIBROMATOSIS TYPE 1

Therapeutic Approach

Neurofibromatosis Type 1 is a neurocutaneous disorder characterized by a susceptibility to tumor development, including cutaneous neurofibroma (cNF), plexiform neurofibroma (pNF), and malignant peripheral nerve sheath cell tumor (MPNST). Initial evaluation of NF1 patients should include whole-body MRI neurography to assess for underlying pNF and possible MPNST development.1 Treatment requires a multidisciplinary team of dermatologists, neurologists, ophthalmologists, geneticists, and occasionally oncologists. Individuals with NF1 most often identify their dermatologic conditions, specifically cNF, as their greatest burden within this complex syndrome.2 Rapid, clinical procedural therapy for cNF has been shown to reduce symptom burden (i.e. pain and itching), improve cosmesis, and improve quality of life in patients with NF1.3 PNFs develop in more than 50% of NF1 patients and can cause significant physical disfigurement and debilitation when the tumor impinges on surrounding structures. Therapy for pNF is primarily surgical but medical therapy can reduce their size. Evaluation of pNF for new severe pain, rapid growth, texture changes (i.e. induration), or new neurological deficits should immediately prompt investigation for potential malignant transformation to MPNST.4 Evidence of MPNST with MRI imaging and tissue pathology necessitates referral to medical, and surgical oncology for surgery and medical management.5-7 See Table 120-1.

Table 120-1Neurofibromatosis Type 1 Treatment Table
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Table 120-1 Neurofibromatosis Type 1 Treatment Table
MEDICATION NAME INDICATION MECHANISM OF ACTION DOSING ADVERSE EFFECTS SUGGESTED MONITORING LEVEL OF EVIDENCE (REFERENCE)
Procedural Therapy
Modified biopsy removal cNF Shave biopsy with additional steps to cure (Figure 1.) PRN Biopsy scar None IIA3
Surgery (primary excision and closure) cNF, pNF Elliptical excision and closure PRN Linear scar, infection None IIA8,9
Surgery (Debulking) pNF Cytoreduction, Removing massive tumor bulk PRN Scar, risks of anesthesia, damage to underlying structures None IIA10,11

Photocoagulation

Nd:YAG, Er:YAG

30ms pulse, 100 J/cm2, 7-10W

 cNF Vaporizing H2O intracellularly PRN Pigmentary alterations None IIA12,13

CO2 laser

Continuous wave, 10 J/cm2 10-20 W

 cNF Vaporizing H2O intracellularly PRN Dermal Scarring, Hyper/hypopigmentation None IIA14-16
Electro-desiccation cNF Thermal Necrosis PRN Significant Scarring None IIB17
Radiofrequency Ablation/Diathermy Loop cNF Thermal Necrosis PRN Significant Scarring None III18
Liposuction pNF Removal of fat with liposuction followed by surgery PRN Damage to surrounding structures, scarring None III19
Systemic Therapy
Selumetinib

pNFa

cNF

 Selective inhibitor MAPK kinase (MEK) 25 mg/m2 of body surface area, oral, twice daily Elevated creatinine kinase, urticaria, skin rash, retinal detachment, retinal vein occlusion, decreased left ventricular ejection fraction Baseline CMP, CBC, echo-cardiogram, ophthalmology exam. Repeat CMP, CBC every 1 mo for 3 mo, then every 3 mo. IB20
Trametinib pNF Reversible, selective inhibitor of MEK1/MEK2 activity 2 mg, oral, daily Acneiform rash, increased risk of bleeding, ocular disease. Baseline CMP, CBC, echo-cardiogram, ophthalmology exam. Repeat CMP, CBC every ...

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