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A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.

ABSTRACT: Objective:To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background:Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning. A common manifestation of neurofibromatosis type 1 is plexiform neurofibromas, non-cancerous tumours that can cause disfigurement, pain and neurologic disability. Patient-reported outcome measures used in this condition have addressed symptoms and functional ability but not how the condition affects patients' lives, particularly, their ability to meet their human needs. Methods:Unstructured qualitative interviews were conducted with adults with neurofibromatosis type 1-associated plexiform neurofibromas in the United Kingdom and United States. Interviewees were encouraged to describe how plexiform neurofibromas affected their ability to meet their needs. Interviews were audio-recorded and transcribed verbatim. The UK and US transcripts were combined and theoretical thematic analysis was conducted. Results:In all, 42 interviews (United Kingdom?=?20, United States?=?22) were conducted. Transcripts revealed 696 statements on the impact of plexiform neurofibromas on need fulfilment. Five major themes emerged: appearance, relationships, independence, role fulfilment and pleasure. Conclusion:Neurofibromatosis type 1-associated plexiform neurofibromas have a major effect on individuals' ability to meet their needs. An understanding of need fulfilment will complement information generated from traditional patient-reported outcome measures, particularly in a multi-faceted syndrome such as neurofibromatosis type 1.

SUBMITTER: Heaney A

PROVIDER: S-EPMC6378462 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.

Heaney Alice A Wilburn Jeanette J Langmead Shannon S Blakeley Jaishri J Huson Susan S Jim Carly C McKenna Stephen P SP

SAGE open medicine 20190211

<h4>Objective</h4>To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1.<h4>Background</h4>Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning. A common manifestation of neurofibromatosis type 1 is plexiform neurofibromas, non-cancerous tumours that can cause disfigurement, pain and neurologic disability. Patient-reported outcome measures used in this condition have addressed symptoms and ...[more]

PMID: 30800298

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Project description:BackgroundEffective medical therapies are lacking for the treatment of neurofibromatosis type 1-related plexiform neurofibromas, which are characterized by elevated RAS-mitogen-activated protein kinase (MAPK) signaling.MethodsWe conducted a phase 1 trial of selumetinib (AZD6244 or ARRY-142886), an oral selective inhibitor of MAPK kinase (MEK) 1 and 2, in children who had neurofibromatosis type 1 and inoperable plexiform neurofibromas to determine the maximum tolerated dose and to evaluate plasma pharmacokinetics. Selumetinib was administered twice daily at a dose of 20 to 30 mg per square meter of body-surface area on a continuous dosing schedule (in 28-day cycles). We also tested selumetinib using a mouse model of neurofibromatosis type 1-related neurofibroma. Response to treatment (i.e., an increase or decrease from baseline in the volume of plexiform neurofibromas) was monitored by using volumetric magnetic resonance imaging analysis to measure the change in size of the plexiform neurofibroma.ResultsA total of 24 children (median age, 10.9 years; range, 3.0 to 18.5) with a median tumor volume of 1205 ml (range, 29 to 8744) received selumetinib. Patients were able to receive selumetinib on a long-term basis; the median number of cycles was 30 (range, 6 to 56). The maximum tolerated dose was 25 mg per square meter (approximately 60% of the recommended adult dose). The most common toxic effects associated with selumetinib included acneiform rash, gastrointestinal effects, and asymptomatic creatine kinase elevation. The results of pharmacokinetic evaluations of selumetinib among the children in this trial were similar to those published for adults. Treatment with selumetinib resulted in confirmed partial responses (tumor volume decreases from baseline of ≥20%) in 17 of the 24 children (71%) and decreases from baseline in neurofibroma volume in 12 of 18 mice (67%). Disease progression (tumor volume increase from baseline of ≥20%) has not been observed to date. Anecdotal evidence of decreases in tumor-related pain, disfigurement, and functional impairment was observed.ConclusionsOur early-phase data suggested that children with neurofibromatosis type 1 and inoperable plexiform neurofibromas benefited from long-term dose-adjusted treatment with selumetinib without having excess toxic effects. (Funded by the National Institutes of Health and others; ClinicalTrials.gov number, NCT01362803 .).

Project description:BackgroundPlexiform neurofibromas are slow-growing chemoradiotherapy-resistant tumours arising in patients with neurofibromatosis type 1 (NF1). Currently, there are no viable therapeutic options for patients with plexiform neurofibromas that cannot be surgically removed because of their proximity to vital body structures. We undertook an open-label phase 2 trial to test whether treatment with imatinib mesylate can decrease the volume burden of clinically significant plexiform neurofibromas in patients with NF1.MethodsEligible patients had to be aged 3-65 years, and to have NF1 and a clinically significant plexiform neurofibroma. Patients were treated with daily oral imatinib mesylate at 220 mg/m(2) twice a day for children and 400 mg twice a day for adults for 6 months. The primary endpoint was a 20% or more reduction in plexiform size by sequential volumetric MRI imaging. Clinical data were analysed on an intention-to-treat basis; a secondary analysis was also done for those patients able to take imatinib mesylate for 6 months. This trial is registered with ClinicalTrials.gov, number NCT01673009.FindingsSix of 36 patients (17%, 95% CI 6-33), enrolled on an intention-to-treat basis, had an objective response to imatinib mesylate, with a 20% or more decrease in tumour volume. Of the 23 patients who received imatinib mesylate for at least 6 months, six (26%, 95% CI 10-48) had a 20% or more decrease in volume of one or more plexiform tumours. The most common adverse events were skin rash (five patients) and oedema with weight gain (six). More serious adverse events included reversible grade 3 neutropenia (two), grade 4 hyperglycaemia (one), and grade 4 increases in aminotransferase concentrations (one).InterpretationImatinib mesylate could be used to treat plexiform neurofibromas in patients with NF1. A multi-institutional clinical trial is warranted to confirm these results.FundingNovartis Pharmaceuticals, the Indiana University Simon Cancer Centre, and the Indiana University Herman B Wells Center for Pediatric Research.

Dataset Information

A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.

Publications

A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1.

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