Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study.
Epidemiology
Malignant peripheral nerve sheath tumour
Neurofibromatosis type 1
Plexiform neurofibromas
Journal
Oncology and therapy
ISSN: 2366-1089
Titre abrégé: Oncol Ther
Pays: New Zealand
ID NLM: 101677510
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
13
09
2022
accepted:
31
10
2022
pubmed:
2
12
2022
medline:
2
12
2022
entrez:
1
12
2022
Statut:
ppublish
Résumé
Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.
Identifiants
pubmed: 36454436
doi: 10.1007/s40487-022-00213-4
pii: 10.1007/s40487-022-00213-4
pmc: PMC9935791
doi:
Types de publication
Journal Article
Langues
eng
Pagination
97-110Informations de copyright
© 2022. The Author(s).
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