Publications by authors named "Anne Dufek"
Article Synopsis
- The study focuses on early detection of peripheral nerve sheath tumors (PNST) associated with neurofibromatosis type 1 (NF1) using a cell-free DNA (cfDNA) fragmentomic approach, which can improve clinical decision-making and treatment outcomes.
- Researchers isolated cfDNA from plasma samples of 101 NF1 patients and 21 healthy controls, employing whole-genome sequencing and analyzing various fragmentomic signatures to differentiate between benign, premalignant, and malignant tumors.
- Results showed that fragmentomic methods successfully distinguished atypical neurofibromas (premalignant) from benign forms and malignant PNST, offering potential for non-invasive diagnostics and better management of NF1-related tumors.*
Objectives: Neurofibromatosis type 1 (NF1) is a genetic cancer predisposition syndrome that can impact multiple organ systems and is associated with plexiform neurofibroma tumors, requiring care from birth through adulthood. Adolescents and young adults (AYAs) with NF1 face several barriers to transition from pediatric to adult care. This cross-sectional study aimed to assess transition readiness in this population and to evaluate relationships between specific NF1 symptoms and transition readiness.
View Article and Find Full Text PDFArticle Synopsis
- Early detection of neurofibromatosis type 1 (NF1) associated tumors can improve clinical decision-making and potentially reduce severe outcomes.
- A new study employed a cell-free DNA (cfDNA) fragmentomic method, successfully differentiating between benign, pre-malignant, and malignant peripheral nerve sheath tumors (PNST) in NF1 patients.
- This innovative approach allows non-invasive diagnosis and could significantly enhance the management of NF1-associated tumors, helping to differentiate conditions like atypical neurofibromas from more severe malignancies.
Article Synopsis
- - A new observer disfigurement severity scale was created to evaluate changes in disfigurement from plexiform neurofibromas, focusing on its feasibility, reliability, and validity.
- - Twenty-eight raters assessed photographs of treated and untreated children with neurofibromas, finding that the average disfigurement scores were similar at the start, but the treated group showed significant improvement after one year.
- - The results indicated that the scoring system was reliable, with consistent ratings among raters and a moderate correlation between changes in disfigurement scores and tumor volume during treatment.
Background: Selumetinib shrank inoperable symptomatic plexiform neurofibromas (PN) in children with neurofibromatosis type 1 (NF1) and provided clinical benefit for many in our previously published phase 1/2 clinical trials (SPRINT, NCT01362803). At the data cutoff (DCO) of the prior publications, 65% of participants were still receiving treatment. This report presents up to 5 years of additional safety and efficacy data from these studies.
View Article and Find Full Text PDFBackground: Selumetinib was recently approved for the treatment of inoperable symptomatic plexiform neurofibromas (PNs) in children with neurofibromatosis type 1 (NF1). This parallel phase II study determined the response rate to selumetinib in children with NF1 PN without clinically significant morbidity.
Methods: Children with NF1 and inoperable PNs, which were not yet causing clinically significant morbidity but had the potential to cause symptoms, received selumetinib at 25 mg/m2 orally twice daily (1 cycle = 28 days).