Collins-Sawaragi, YC;
Ferner, R;
Vassallo, G;
De Agrò, G;
Eccles, S;
Cadwgan, J;
Hargrave, D;
... Lascelles, K; + view all
(2022)
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019.
American Journal of Medical Genetics, Part A
, 188
(6)
pp. 1723-1727.
10.1002/ajmg.a.62691.
Preview |
Text
Hargrave_Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019_AAM.pdf Download (199kB) | Preview |
Abstract
We report on the location, symptoms, and management of plexiform neurofibroma (PN) in children with Neurofibromatosis Type 1 (NF1) attending the 2 National Complex Neurofibromatosis 1 Services at Guy's and St. Thomas' NHS Foundation Trust, London and St Mary's Hospital, Manchester. Retrospective data collection was performed from patient chart reviews from April 2018 to April 2019. There were 127 NF1 patients with PN, age range 0.8–17.0, mean age was 9.9 years (SD ± 4.2 years). The main location of the PN was craniofacial in 35%, and limb in 19%. Disfigurement was present in 57%, pain in 28%, impairment of function in 23%, and threat to function in 9% of children. Fifty-four percent of patients were managed conservatively, 28% surgically, and 19% are either taking or due to start a mitogen-activated protein kinase kinase (MEK) inhibitor (selumetinib or trametinib), either through a clinical trial or compassionate usage scheme. This national study provides a comprehensive overview of the management of children with PN in an era where new therapies (MEK inhibitors) are becoming more widely available. We anticipate that there will be a shift to more patients receiving MEK inhibitor therapy and combination therapy (surgery and MEK inhibitor) in the future.
Type: | Article |
---|---|
Title: | Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019 |
Location: | United States |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.1002/ajmg.a.62691 |
Publisher version: | https://doi.org/10.1002/ajmg.a.62691 |
Language: | English |
Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
Keywords: | location, management, neurofibromatosis type 1, plexiform neurofibroma, symptom |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
URI: | https://discovery.ucl.ac.uk/id/eprint/10145458 |
Archive Staff Only
![]() |
View Item |