From the Guidelines
The management of Neurofibromatosis types 1 and 2 (NF1 and NF2) requires a multidisciplinary approach focused on surveillance, symptom management, and treatment of complications, with the goal of improving quality of life and reducing morbidity and mortality. For NF1, management includes annual clinical examinations to monitor for new neurofibromas, blood pressure checks, and developmental assessments in children 1. Surgical removal is recommended for painful, rapidly growing, or disfiguring neurofibromas. Plexiform neurofibromas may be treated with selumetinib (Koselugo), FDA-approved for children, at 25 mg/m² twice daily. Regular ophthalmologic examinations are essential to detect optic pathway gliomas, which may require chemotherapy (typically vincristine and carboplatin) or MEK inhibitors.
For NF2, management centers on MRI surveillance of vestibular schwannomas and other CNS tumors. Treatment options include:
- Surgical resection
- Stereotactic radiosurgery
- Bevacizumab (Avastin) at 5-10 mg/kg every 2-3 weeks for progressive vestibular schwannomas causing hearing loss, as it has been shown to improve hearing and reduce tumor growth in NF2 patients 1. Key considerations in the management of NF2 include the high incidence of newly developing tumors, fast tumor growth, and early tumor regrowth, making regular follow-up intervals of 6-12 months crucial, particularly in younger patients 1.
Both conditions require genetic counseling and psychosocial support. Regular screening for associated conditions is crucial, including:
- Scoliosis, hypertension, and learning disabilities in NF1
- Cataracts and peripheral neuropathy in NF2 The goal of management is to detect complications early and intervene appropriately to improve quality of life, as these genetic disorders currently have no cure.
From the Research
Management and Treatment Approach for Neurofibromatosis (NF) 1 and 2
The management and treatment of Neurofibromatosis (NF) 1 and 2 require a comprehensive and multidisciplinary approach, as these conditions are complex genetic disorders with numerous manifestations and wide phenotypic variability 2, 3, 4, 5, 6.
- Multidisciplinary Care: A multidisciplinary team (MDT) comprising healthcare professionals from many areas of expertise is essential for addressing the multifaceted needs of NF1 and NF2 patients, ensuring comprehensive and personalized care 3, 4, 5.
- Clinical Features and Genetics: Understanding the clinical features, genetics, pathogenesis, and management of NF1 and NF2 is crucial for proper medical management, anticipatory care, and patient education 2, 6.
- Diagnosis and Evaluation: A comprehensive approach to diagnosis and treatment, including DNA diagnostic testing, is necessary for individuals with NF1 and NF2 5.
- Treatment Challenges: The heterogeneity of NF1 presents significant challenges to the development of effective treatments, but recent studies aimed at understanding the role of the NF1 protein (neurofibromin) as a tumor suppressor have revealed potential avenues for therapy 6.
- Importance of Expertise: The role of the NF expert is central to guiding the MDT and ensuring that patients receive optimal care, highlighting the need for further investigation to optimize the workflow for NF1 patients in an MDT setting 3.