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Predictors of the Risk of Mortality in Neurofibromatosis 2

To evaluate clinical and molecular predictors of the risk of mortality in people with neurofibromatosis 2 (NF2), we analyzed the mortality experience of 368 patients from 261 families in the United Kingdom NF2 registry, using the Cox proportional-hazards model and the jackknife method. Age at diagno... Full description

Journal Title: American journal of human genetics 2002, Vol.71 (4), p.715-723
Main Author: Baser, Michael E.
Other Authors: Friedman, J.M. , Aeschliman, Dana , Joe, Harry , Wallace, Andrew J. , Ramsden, Richard T. , Evans, D. Gareth R.
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_378530
title: Predictors of the Risk of Mortality in Neurofibromatosis 2
format: Article
creator:
  • Baser, Michael E.
  • Friedman, J.M.
  • Aeschliman, Dana
  • Joe, Harry
  • Wallace, Andrew J.
  • Ramsden, Richard T.
  • Evans, D. Gareth R.
subjects:
  • Adolescent
  • Adult
  • Age Factors
  • Analysis
  • Biological and medical sciences
  • Child
  • Child, Preschool
  • Female
  • Gene mutations
  • Genetic aspects
  • Genetics
  • Genetics(clinical)
  • Human genetics
  • Humans
  • Infant
  • Male
  • Medical sciences
  • Mortality
  • Neurofibromatosis
  • Neurofibromatosis 2 - diagnosis
  • Neurofibromatosis 2 - mortality
  • Neurology
  • otorhinolaryngologic diseases
  • Prognosis
  • Risk Factors
  • Tumors of the nervous system. Phacomatoses
ispartof: American journal of human genetics, 2002, Vol.71 (4), p.715-723
description: To evaluate clinical and molecular predictors of the risk of mortality in people with neurofibromatosis 2 (NF2), we analyzed the mortality experience of 368 patients from 261 families in the United Kingdom NF2 registry, using the Cox proportional-hazards model and the jackknife method. Age at diagnosis, intracranial meningiomas, and type of treatment center were informative predictors of the risk of mortality. In Cox models, the relative risk of mortality increased 1.13-fold per year decrease in age at diagnosis (95% confidence interval [CI] 1.08–1.18) and was 2.51-fold greater in people with meningiomas compared with those without meningiomas (95% CI 1.38–4.57). The relative risk of mortality in patients treated at specialty centers was 0.34 compared with those treated at nonspecialty centers (95% CI 0.12–0.98). In a separate model, the relative risk of mortality in people with constitutional NF2 missense mutations was very low compared with those with other types of mutations (nonsense or frameshift mutations, splice-site mutations, and large deletions), but the CI could not be well quantified because there was only one death among people with missense mutations. We conclude that age at diagnosis, the strongest single predictor of the risk of mortality, is a useful index for patient counseling and clinical management (as are intracranial meningiomas). To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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descriptionTo evaluate clinical and molecular predictors of the risk of mortality in people with neurofibromatosis 2 (NF2), we analyzed the mortality experience of 368 patients from 261 families in the United Kingdom NF2 registry, using the Cox proportional-hazards model and the jackknife method. Age at diagnosis, intracranial meningiomas, and type of treatment center were informative predictors of the risk of mortality. In Cox models, the relative risk of mortality increased 1.13-fold per year decrease in age at diagnosis (95% confidence interval [CI] 1.08–1.18) and was 2.51-fold greater in people with meningiomas compared with those without meningiomas (95% CI 1.38–4.57). The relative risk of mortality in patients treated at specialty centers was 0.34 compared with those treated at nonspecialty centers (95% CI 0.12–0.98). In a separate model, the relative risk of mortality in people with constitutional NF2 missense mutations was very low compared with those with other types of mutations (nonsense or frameshift mutations, splice-site mutations, and large deletions), but the CI could not be well quantified because there was only one death among people with missense mutations. We conclude that age at diagnosis, the strongest single predictor of the risk of mortality, is a useful index for patient counseling and clinical management (as are intracranial meningiomas). To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers.
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subjectAdolescent ; Adult ; Age Factors ; Analysis ; Biological and medical sciences ; Child ; Child, Preschool ; Female ; Gene mutations ; Genetic aspects ; Genetics ; Genetics(clinical) ; Human genetics ; Humans ; Infant ; Male ; Medical sciences ; Mortality ; Neurofibromatosis ; Neurofibromatosis 2 - diagnosis ; Neurofibromatosis 2 - mortality ; Neurology ; otorhinolaryngologic diseases ; Prognosis ; Risk Factors ; Tumors of the nervous system. Phacomatoses
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abstractTo evaluate clinical and molecular predictors of the risk of mortality in people with neurofibromatosis 2 (NF2), we analyzed the mortality experience of 368 patients from 261 families in the United Kingdom NF2 registry, using the Cox proportional-hazards model and the jackknife method. Age at diagnosis, intracranial meningiomas, and type of treatment center were informative predictors of the risk of mortality. In Cox models, the relative risk of mortality increased 1.13-fold per year decrease in age at diagnosis (95% confidence interval [CI] 1.08–1.18) and was 2.51-fold greater in people with meningiomas compared with those without meningiomas (95% CI 1.38–4.57). The relative risk of mortality in patients treated at specialty centers was 0.34 compared with those treated at nonspecialty centers (95% CI 0.12–0.98). In a separate model, the relative risk of mortality in people with constitutional NF2 missense mutations was very low compared with those with other types of mutations (nonsense or frameshift mutations, splice-site mutations, and large deletions), but the CI could not be well quantified because there was only one death among people with missense mutations. We conclude that age at diagnosis, the strongest single predictor of the risk of mortality, is a useful index for patient counseling and clinical management (as are intracranial meningiomas). To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers.
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