Neurofibromatosis type 1 Diagnostic Updates and Plexiform Neurofibroma Treatment Options (218)

2:30 – 3:30 pm Thursday, September 3

Neurofibromatosis (NF) 1 is a progressive autosomal dominant disorder that results from a germline mutation of a protein called neurofibromin that occurs in one out of every 3500 births (AANS, 2019). The clinical diagnosis of NF1 is based on the presence of two or more cardinal symptoms identified in the 1988 National Institute of Health (NIH) Diagnostic Criteria.

Common manifestations of NF1 that are beyond the NIH diagnostic criteria include short stature, scoliosis, speech disorders, neurocognitive disorders, headaches, and unidentified bright objects (UBOs) on MRI brain scans (Jouhilahi et al., 2010; Tadini et al., 2014). There is also molecular testing available that can confirm the diagnosis in 95% of patients. World-leading NF experts are currently working to finalize updates for NF1 diagnostic criteria and care guidelines (Evans et al, 2019). There are also updated 2019 AAP and ACMG guidelines for primary care providers regarding managing individuals with NF1 (Miller & Ulrich, 2019). This pertinent information will be disseminated to pediatric nurses and nurse practitioners who care for those patients with NF1. Education is needed to update nurses on the potential increase in cases of NF1 patients requiring targeted therapy. There are limited drugs that are Food and Drug Administration (FDA) approved for pediatric patients with NF1. National Cancer Institute researchers (2016) report the MEK inhibitors can safely reduce tumor burden in pediatric patients with NF1-related PNs with acceptable toxicities (Dombi, Baldwin, & Marcus, 2016). Plexiform neurofibromas (PNs) can be present in up to 50% of people with NF1. Often diagnosed in childhood, there can be the rapid growth of PNs with complications of pain, disfigurement, functional impairment, and potentially fatal malignant transformation. Often, complete surgical resection is not an option for these neurofibromas, and regrowth after resections has been observed. As a result, medical management with pharmacological agents is proven to be beneficial (Dombi et al., 2016).

Speaker(s):
Racheal Bingham, MSN CPNP CPON®
CNE Hours:
1