Get the facts on NF1 and breast cancerTreatments
for individuals with Neurofibromatosis Type 1 (NF1)
Due to the wide range of symptoms with NF1 and their varying severity, treatment plans are tailored to each individual’s needs. A multidisciplinary approach is used to ensure the best possible outcomes. Treatment primarily focuses on managing symptoms and complications rather than curing the condition. Healthcare providers will review and recommend management options: Here is an overview of common treatments. However not all treatments will be suitable or available for everyone with the condition. As research continues into NF1, new treatments and management strategies may become available, so recommendations could change.
Surgical interventions
Neurofibroma Removal: Surgery is often used to remove painful or disfiguring cutaneous (skin) neurofibromas and plexiform neurofibromas. However, plexiform neurofibromas are complex and may regrow, so surgery is often reserved for those that are symptomatic or rapidly growing.
Orthopedic Surgery: Skeletal issues, such as scoliosis or bowing of long bones, are common in NF1. Surgery can help correct severe cases to prevent further complications.
Chemotherapy for Optic Pathway Gliomas (OPGs)
Optic pathway gliomas (OPGs), benign brain tumours affecting the optic nerves, are common in children with NF1. When treatment is required—usually because the tumour is causing vision loss – chemotherapy is a standard approach. Chemotherapy, can help stabilise or shrink the tumour and preserve vision.
Radiotherapy is generally avoided in NF1 because it can increase the risk of developing additional tumours in individuals with the condition.
MEK inhibitors
MEK inhibitors, such as selumetinib, are a newer treatment option. This represents an important step forward in treatment options for those living with NF1.
Selumetinib (Koselugo) has been approved by NICE for treating symptomatic and inoperable plexiform neurofibromas associated with type 1 neurofibromatosis in children aged 3 and over in England Read more here >
Other symptom-specific therapies
Pain management: Chronic pain from neurofibromas or skeletal abnormalities is common, and pain management strategies include medication, physical therapy, and, in some cases, surgical intervention.
Vision support: For individuals with OPGs that impact vision, regular monitoring and supportive therapies, such as corrective lenses, can help manage visual impairments.
Behavioral and learning support: Many with NF1 experience cognitive and developmental challenges. Supportive therapies include educational interventions, occupational therapy, and sometimes medication for ADHD symptoms.
Experimental therapies and clinical trials
Ongoing research is exploring targeted therapies that address the underlying genetic mutations in NF1. MEK inhibitors have paved the way, and other molecular treatments are under investigation to provide more options in managing complex symptoms.
Two promising treatments under investigation for managing cutaneous neurofibromas in NF1 are a topical gel and an ultrasound-based treatment. Here’s an overview of these trials:
1. Topical gel for Cutaneous Neurofibromas
Researchers are exploring the use of topical gels that deliver drugs directly to cutaneous neurofibromas. These gels are designed to reduce the size and growth of neurofibromas and potentially improve the skin’s appearance. While details on specific drugs in these gels vary, they often target pathways involved in tumour growth, such as the RAS/MAPK pathway.
Early clinical trials have shown promise, with some patients experiencing a reduction in neurofibroma size and improved texture of the skin around the tumours. Trials are ongoing, and the goal is to provide a non-invasive, easy-to-apply option for managing visible and potentially painful neurofibromas.
2. High-Intensity Focused Ultrasound (HIFU) for Neurofibroma reduction
High-Intensity Focused Ultrasound (HIFU) is an innovative approach being trialled to treat neurofibromas without surgery. This method uses targeted ultrasound waves to destroy tumour cells while leaving surrounding tissue unharmed. HIFU is already used for certain types of tumours in other conditions, and researchers are studying its effectiveness for NF1-related neurofibromas.
Trials are examining if HIFU can effectively reduce the size of neurofibromas and alleviate associated symptoms, such as pain and discomfort. If successful, it could become a minimally invasive alternative for those who prefer to avoid surgery.
Both approaches – topical gels and HIFU – are still in clinical trials, and further studies are needed to determine long-term safety, efficacy, and the best candidates for each treatment.
.