Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution
Authors
Forde, C.King, A. T.
Rutherford, S. A.
Hammerbeck-Ward, C.
Lloyd, S. K.
Freeman, S. R.
Pathmanaban, O. N.
Stapleton, E.
Thomas, O. M.
Laitt, R. D.
Stivaros, S.
Kilday, J. P.
Vassallo, G.
McBain, Catherine A
Kerrigan, S.
Smith, M. J.
McCabe, Martin
Harkness, E. F.
Evans, D. G.
Affiliation
Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Division of Evolution and Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Universities NHS Foundation Trust, Manchester,Issue Date
2020
Metadata
Show full item recordAbstract
Background: Limited data exists on the disease course of Neurofibromatosis Type 2 (NF2) to guide clinical trial design. Methods: A prospective database of patients meeting NF2 diagnostic criteria, reviewed between 1990-2020, was evaluated. Follow-up to first vestibular schwannoma (VS) intervention and death was assessed by univariate analysis and stratified by age at onset, era referred and inheritance type. Interventions for NF2-related tumours were assessed. Cox regression was performed to determine the relationship between individual factors from time of diagnosis to NF2-related death. Results: Three-hundred-and-fifty-three patients were evaluated. During 4643.1 follow-up years from diagnosis to censoring 60 patients (17.0%) died. The annual mean number of patients undergoing VS surgery or radiotherapy declined, from 4.66 and 1.65 respectively per 100 NF2 patients in 1990-1999 to 2.11 and 1.01 in 2010-2020, as the number receiving bevacizumab increased (2.51 per 100 NF2 patients in 2010-2020). Five patients stopped bevacizumab to remove growing meningioma or spinal schwannoma. 153/353 (43.3%) had at least one neurosurgical intervention/radiation treatment within 5 years of diagnosis. Patients asymptomatic at diagnosis had longer time to intervention and better survival compared to those presenting with symptoms. Those symptomatically presenting <16 and >40 years had poorer overall survival than those presenting at 26-39 years (P=0.03 and P=0.02 respectively) but those presenting between 16-39 had shorter time to VS intervention. Individuals with de novo constitutional variants had worse survival than those with de novo mosaic or inherited disease (P=0.004). Conclusion: Understanding disease course improves prognostication, allowing for better informed decisions about care.Citation
Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, et al. Disease course of Neurofibromatosis Type 2; a 30-year follow-up study of 353 patients seen at a single institution. Neuro Oncol. 2020.Journal
Neuro OncologyDOI
10.1093/neuonc/noaa284PubMed ID
33336705Additional Links
https://dx.doi.org/10.1093/neuonc/noaa284Type
ArticleLanguage
enae974a485f413a2113503eed53cd6c53
10.1093/neuonc/noaa284