Abstract
BackgroundPlexiform neurofibromas (PNs) occur in 30–50% of pediatric patients with neurofibromatosis type 1 (NF1), often resulting in debilitating pain and dysfunction. Real-world evidence describing the clinical disease burden among these patients is limited. This study aimed to characterize this burden among pediatric NF1 PN patients in the United States (US). MethodsCaregivers of 82 patients ages 2–18 years with NF1 PN in the US who were treatment naïve or new users of selumetinib (defined as ≤1 month of use) were recruited through the Children’s Tumor Foundation to participate in an online cross-sectional survey from December 1, 2020 through January 14, 2021. Participants responded to items measuring patient demographic and clinical characteristics and the burden of debulking surgeries. ResultsOn average, patients were 11.5 [standard deviation (SD)=4.0] years old and predominantly treatment naïve (97.6%). Most were white/Caucasian (85.4%), and 53.7% were female. Most patients had been diagnosed with NF1 and PN for >5 years (80.5% and 68.3%, respectively). A majority of patients (58.5%) had >20 café-au-lait spots. Most patients (59.8%) had >1 PN, with 11.0% reporting >5 PNs, frequently located on the back (40.2%) and head (32.9%). Common symptoms included pain (64.6%), disfigurement (32.9%), and motor dysfunction (28.0%). Common comorbidities included attention-deficit disorder (56.1%) and headaches (47.6%). Few patients had received complete resections of their tumors (12.2%), and 39.0% reported ≥1 debulking surgery. Among the 32 patients with debulking surgeries, 5 patients (15.6%) reported complications, including acute complications (60.0%) and post-operative symptoms (40.0%). Debulking surgery-related emergency room visits and hospitalizations were common (25.0% and 53.1%, respectively); mean length of stay per hospitalization was 5.9 (SD=6.2) days. ConclusionThe clinical disease burden of NF1 PN among this pediatric patient population is substantial. While debulking surgeries are used for symptom management, they were related to considerable clinical sequelae.
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