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Review
. 2022 Jun;188(6):1723-1727.
doi: 10.1002/ajmg.a.62691. Epub 2022 Feb 18.

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019

Yoshua Colyn Collins-Sawaragi  1 , Rosalie Ferner  2 , Grace Vassallo  3 , Germana De Agrò  3 , Simon Eccles  1 , Jill Cadwgan  1 , Darren Hargrave  1   4 , Eileen Hupton  3 , Judith Eelloo  3 , Lauren Lunt  3 , Vivian Tang  3 , Emma Burkitt Wright  3   5 , Karine Lascelles  1   2
Affiliations
Review

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019

Yoshua Colyn Collins-Sawaragi et al. Am J Med Genet A. 2022 Jun.

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.

Keywords: location; management; neurofibromatosis type 1; plexiform neurofibroma; symptom.

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References

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