Malignant peripheral nerve sheath tumours in neurofibromatosis 1
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TLDR
The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.Abstract:
Background: Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk. Methods: NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regional Cancer Registry. Results: Twenty-one NF1 patients developed MPNST, equivalent to an annual incidence of 1.6 per 1000 and a lifetime risk of 8-13%. There were 37 patients with sporadic MPNST. The median age at diagnosis of MPNST in NF1 patients was 26 years, compared to 62 years in patients with sporadic MPNST (p Conclusion: The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.read more
Citations
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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E. Ferner,Susan M Huson,Nicholas Thomas,Celia Moss,Harry Willshaw,D. Gareth Evans,Meena Upadhyaya,Richard Towers,Michael Gleeson,Christine Steiger,Amanda Kirby +10 more
TL;DR: A consensus statement on the current guidelines for diagnosis and management of neurofibromatosis 1 is produced, based on published clinical studies and on the pooled knowledge of experts with experience of providing multidisciplinary clinical and molecular services for NF1 patients.
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Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
D G R Evans,E. Howard,E. Howard,C. Giblin,C. Giblin,Thomas E. Clancy,Thomas E. Clancy,H. Spencer,H. Spencer,Susan M Huson,Susan M Huson,Fiona Lalloo,Fiona Lalloo +12 more
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References
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Journal ArticleDOI
Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases.
Barbara S. Ducatman,Bernd W. Scheithauer,David G. Piepgras,Herbert M. Reiman,Duane M. Ilstrup +4 more
TL;DR: The MPNST is an aggressive uncommon neoplasm, and large tumor size, the presence of neurofibromatosis, and total resection are the most important prognostic indicators.
Journal Article
International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis.
TL;DR: A multidisciplinary team approach to the management of this complex disorder is advocated and collaborative research should be promoted with the aim of harnessing advances in molecular genetics to develop targeted therapies for MPNST in people with NF1.
Journal ArticleDOI
Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms.
TL;DR: It is concluded that patients with severe neurofibromatosis requiring hospitalization often have a poor prognosis, but incidentally diagnosed relatives may have a considerably better outcome.
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A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.
TL;DR: A population based study of von Recklinghausen neurofibromatosis in south east Wales identified 69 families with 135 affected members and the genetic fitness of NF-1 sufferers was reduced to 0.47, the effect being more marked in males than females.
Journal ArticleDOI
Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.
TL;DR: Findings of decreased life expectancy for persons withNF1 are supported and population-based data about NF1 morbidity and mortality that are useful to clinicians caring for patients with NF1 are provided.