A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom

Objective: Neurofibromatosis type 1 (NF1) is a tumour syndrome known to have significant life altering manifestations; one such major manifestation is spinal lesions. Much of the published literature on NF1 comes from large dedicated NF1 centres which receive patients from a wide non defined geograp...

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Main Authors: Moska Sial, K. Joshi George
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Interdisciplinary Neurosurgery
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Online Access:http://www.sciencedirect.com/science/article/pii/S2214751925001008
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author Moska Sial
K. Joshi George
author_facet Moska Sial
K. Joshi George
author_sort Moska Sial
collection DOAJ
description Objective: Neurofibromatosis type 1 (NF1) is a tumour syndrome known to have significant life altering manifestations; one such major manifestation is spinal lesions. Much of the published literature on NF1 comes from large dedicated NF1 centres which receive patients from a wide non defined geographic area. This makes it difficult to work out the prevalence of a particular disease in a defined population. This is a retrospective clinical review that investigates the prevalence of spinal lesions in NF1 patients in a defined geographical location. Methods: The data was collected over a period of 5 years from a cohort of 73 patients; each patient had a complete diagnosis of NF1 and resided in Manchester, United Kingdom, at the time of the study. This data was collected from multidisciplinary team meeting reports, with included spinal radiological reports investigating 20 variables related to any spinal disease associated with NF1. Results: Spinal nerve root tumours were found in 51 % of patients in this cohort, the most common spinal region being the cervical spine; 60 % of the total number of patients with spinal nerve root tumours had C2 spinal nerve root tumours. Spinal deformity was present in 60 % of patients in this cohort. The most common spinal deformity in this cohort was scoliosis, where 91 % of these patients with spinal deformities had scoliosis. Conclusion: This is the first reported study to publish data on the prevalence of known spinal lesions in NF1 individuals from a defined geographical location. This review aims to aid current clinical practice in the management of NF1, as well as fill the gap in the current NF1 literature.
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spelling doaj-art-4c35c19e2e604958b285ebdf423689b62025-08-20T03:49:50ZengElsevierInterdisciplinary Neurosurgery2214-75192025-09-014110208810.1016/j.inat.2025.102088A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United KingdomMoska Sial0K. Joshi George1Corresponding author.; Department of Neurosurgery, Salford Royal Hospital, Manchester, England M6 8HD, United KingdomDepartment of Neurosurgery, Salford Royal Hospital, Manchester, England M6 8HD, United KingdomObjective: Neurofibromatosis type 1 (NF1) is a tumour syndrome known to have significant life altering manifestations; one such major manifestation is spinal lesions. Much of the published literature on NF1 comes from large dedicated NF1 centres which receive patients from a wide non defined geographic area. This makes it difficult to work out the prevalence of a particular disease in a defined population. This is a retrospective clinical review that investigates the prevalence of spinal lesions in NF1 patients in a defined geographical location. Methods: The data was collected over a period of 5 years from a cohort of 73 patients; each patient had a complete diagnosis of NF1 and resided in Manchester, United Kingdom, at the time of the study. This data was collected from multidisciplinary team meeting reports, with included spinal radiological reports investigating 20 variables related to any spinal disease associated with NF1. Results: Spinal nerve root tumours were found in 51 % of patients in this cohort, the most common spinal region being the cervical spine; 60 % of the total number of patients with spinal nerve root tumours had C2 spinal nerve root tumours. Spinal deformity was present in 60 % of patients in this cohort. The most common spinal deformity in this cohort was scoliosis, where 91 % of these patients with spinal deformities had scoliosis. Conclusion: This is the first reported study to publish data on the prevalence of known spinal lesions in NF1 individuals from a defined geographical location. This review aims to aid current clinical practice in the management of NF1, as well as fill the gap in the current NF1 literature.http://www.sciencedirect.com/science/article/pii/S2214751925001008Dural ectasiaNeurofibromaNeurofibromatosis type 1ScoliosisSpinal lesions
spellingShingle Moska Sial
K. Joshi George
A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
Interdisciplinary Neurosurgery
Dural ectasia
Neurofibroma
Neurofibromatosis type 1
Scoliosis
Spinal lesions
title A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
title_full A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
title_fullStr A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
title_full_unstemmed A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
title_short A review of the prevalence of spinal lesions in neurofibromatosis type 1 in Manchester, United Kingdom
title_sort review of the prevalence of spinal lesions in neurofibromatosis type 1 in manchester united kingdom
topic Dural ectasia
Neurofibroma
Neurofibromatosis type 1
Scoliosis
Spinal lesions
url http://www.sciencedirect.com/science/article/pii/S2214751925001008
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