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Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity
Author(s) -
Halliday Dorothy,
Emmanouil Beatrice,
Vassallo Grace,
Lascelles Karine,
Nicholson James,
Chandratre Saleel,
Anand Geetha,
Wasik Martin,
Pretorius Pieter,
Evans D. Gareth,
Parry Allyson
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13551
Subject(s) - medicine , neurofibromatosis type 2 , schwannoma , neurofibromatosis , meningioma , cohort , bevacizumab , retrospective cohort study , neurofibromatoses , pediatrics , surgery , pathology , chemotherapy
Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England 1.0). Focal cortical dysplasia occurred in 26% group 3 and 4% 2A. A total of 48% of group 3 underwent ≥1 major intervention (intracranial/spinal surgery/Bevacizumab/radiotherapy) compared to 35% of 2A; with 23% group 3 undergoing spinal surgery (schwannoma/ependymoma/meningioma resection) compared to 4% of 2A. Mean age starting Bevacizumab was 12.7 in group 3 and 14.9 years in 2A. In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention.