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Book: Neurofibromatoses in clinical practice

Ferner, Rosalie E. / Huson, Susan M. / Evans, D. Gareth R.

2011

Author's details	Rosalie E. ferner ; Susan M. Huson ; D. Gareth R. Evans
Language	English
Size	XVII, 162 S. : Ill., graph. Darst.
Publisher	Springer
Publishing place	London u.a.
Publishing country	Great Britain
Document type	Book
HBZ-ID	HT016970963
ISBN	978-0-85729-628-3 ; 0-85729-628-0
Database	Catalogue ZB MED Medicine, Health

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2011 A 3698	order for loan	Magazin

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Article ; Online: Association of sociodemographic and clinical factors with the quality of life of Brazilian individuals with Neurofibromatosis type 1: a cross-sectional study.

Bicudo, Natália Parenti / Germano, Carla Maria Ramos / de Moraes, Roberta Teixeira / de Avó, Lucimar Retto da Silva / Ferner, Rosalie E / Melo, Débora Gusmão

Anais brasileiros de dermatologia

2024

Abstract: Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences.: Objectives: This study assessed the influence ... ...

Abstract	Background: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. Objectives: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. Methods: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale. The relationship between variables was evaluated through statistical testing, and the significance level was defined as 0.05. Results: The study included 101 adults with NF1 aged 18 to 59 years, with a mean age of 35.54 years (±9.63) and a female predominance (n = 84, 83.17%). The mean total INF1-QoL score was 10.62 (±5.63), with a median of 10, minimum value of 0, and maximum of 31 points. Two characteristics of the participants were significantly associated with the quality of life: educational level (p = 0.003) and familial history of NF1 (p = 0.019). There was a statistically significant correlation between the INF1-QoL score and the degree of disease visibility (rho = 0.218; p = 0.028). Study limitations: Cross-sectional study, conducted with a convenience sample and using self-reported measures. Conclusions: The findings support the significant impact of NF1 on quality of life. The authors recommend multidisciplinary follow-up for patients, with adherence to anticipatory clinical care measures, adequate pain control, psychological assistance, and genetic counseling.
Language	English
Publishing date	2024-03-16
Publishing country	Spain
Document type	Journal Article
ZDB-ID	433655-0
ISSN	1806-4841 ; 0365-0596
ISSN (online)	1806-4841
ISSN	0365-0596
DOI	10.1016/j.abd.2023.08.011
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Article ; Online: Cross-cultural adaptation and psychometric properties of the Brazilian Portuguese version of the Impact of Neurofibromatosis type 1 on Quality of Life (INF1-QoL) questionnaire.

Bicudo, Natália P / Germano, Carla Maria Ramos / de Avó, Lucimar R S / Ferner, Rosalie E / Melo, Débora G

The British journal of dermatology

2023 Volume 188, Issue 5, Page(s) 689–690

MeSH term(s)	Humans ; Quality of Life ; Neurofibromatosis 1/diagnosis ; Cross-Cultural Comparison ; Brazil ; Psychometrics ; Surveys and Questionnaires ; Reproducibility of Results ; Translations
Language	English
Publishing date	2023-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1093/bjd/ljad037
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Article ; Online: Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

Sheerin, Una-Marie / Holmes, Paul / Childs, Lucy / Roy, Amit / Ferner, Rosalie E

American journal of medical genetics. Part A

2022 Volume 188, Issue 10, Page(s) 3009–3015

Abstract: Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in ... ...

Abstract	Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in our service between 2009 and 2019, to determine presence of vascular abnormalities, age at detection, associated symptoms and management. A literature review of the range of vascular abnormalities associated with NF1 was also undertaken. 1234 patients had magnetic resonance imaging cranial imaging. The frequency of vascular abnormalities associated with NF1 patients who had cranial imaging in this cohort was 3.5% (n = 43), the majority (n = 26, 60%) were symptomatic. Stroke and cerebral arterial stenosis were the commonest vascular complication. Eight patients (0.65%) had more than one type of vascular abnormality. One death due to a vascular complication was identified and significant morbidity resulted from other complications. We conclude that clinicians caring for patients with NF1 need to be cognizant that rapid onset of new neurological symptoms or signs may be the result of a vascular complication of NF1 and require urgent investigation and management, ideally within specialist teams who have experience of managing vascular complications of NF1.
MeSH term(s)	Adult ; Cardiovascular Abnormalities/complications ; Humans ; Magnetic Resonance Imaging ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/pathology ; Referral and Consultation ; Vascular Diseases
Language	English
Publishing date	2022-08-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62931
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Article ; Online: ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.

Carton, Charlotte / Evans, D Gareth / Blanco, Ignacio / Friedrich, Reinhard E / Ferner, Rosalie E / Farschtschi, Said / Salvador, Hector / Azizi, Amedeo A / Mautner, Victor / Röhl, Claas / Peltonen, Sirkku / Stivaros, Stavros / Legius, Eric / Oostenbrink, Rianne

EClinicalMedicine

2023 Volume 56, Page(s) 101818

Abstract: Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care and ... ...

Abstract	Background: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder, predisposing development of benign and malignant tumours. Given the oncogenic potential, long-term surveillance is important in patients with NF1. Proposals for NF1 care and its specific manifestations have been developed, but lack integration within routine care. This guideline aims to assimilate available information on NF1 associated tumours (based on evidence and/or expert opinion) to assist healthcare professionals in undertaking tumour surveillance of NF1 individuals. Methods: By comprehensive literature review, performed March 18th 2020, guidelines were developed by a NF1 expert group and patient representatives, conversant with clinical care of the wide NF1 disease spectrum. We used a modified Delphi procedure to overcome issues of variability in recommendations for specific (national) health care settings, and to deal with recommendations based on indirect (scarce) evidence. Findings: We defined proposals for personalised and targeted tumour management in NF1, ensuring appropriate care for those in need, whilst reducing unnecessary intervention. We also incorporated the tumour-related psychosocial and quality of life impact of NF1. Interpretation: The guideline reflects the current care for NF1 in Europe. They are not meant to be prescriptive and may be adjusted to local available resources at the treating centre, both within and outside EU countries. Funding: This guideline has been supported by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS). ERN GENTURIS is funded by the European Union. DGE is supported by the Manchester NIHRBiomedical Research Centre (IS-BRC-1215-20007).
Language	English
Publishing date	2023-01-13
Publishing country	England
Document type	Journal Article ; Review
ISSN	2589-5370
ISSN (online)	2589-5370
DOI	10.1016/j.eclinm.2022.101818
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Article ; Online: The neurofibromatoses.

Ferner, Rosalie E

Practical neurology

2010 Volume 10, Issue 2, Page(s) 82–93

Abstract: Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited autosomal dominant disorders that have a significant impact on the nervous system and predispose to tumour formation. The current nomenclature makes NF1 and NF2 awkward bedfellows ... ...

Abstract	Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are inherited autosomal dominant disorders that have a significant impact on the nervous system and predispose to tumour formation. The current nomenclature makes NF1 and NF2 awkward bedfellows because they are clinically and genetically separate disorders. Neurofibromas are characteristic of NF1, a common condition with major skin involvement and many clinical complications. By contrast, schwannomas are the distinctive lesions in NF2, cutaneous signs are less prominent in this rarer disorder and clinical manifestations are largely restricted to the nervous system and eye. The current aim of neurofibromatosis specialists is to provide cohesive standards of care for everyone with neurofibromatosis and to devise standardised protocols for assessment and management within a multidisciplinary setting.
MeSH term(s)	Cognition Disorders/etiology ; Humans ; Neurofibromatoses/epidemiology ; Neurofibromatoses/genetics ; Neurofibromatoses/pathology ; Neurofibromatoses/therapy
Language	English
Publishing date	2010-04
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2170881-2
ISSN	1474-7766 ; 1474-7758
ISSN (online)	1474-7766
ISSN	1474-7758
DOI	10.1136/jnnp.2010.206532
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Article ; Online: Neurofibromatosis-related tumors: emerging biology and therapies.

Karajannis, Matthias A / Ferner, Rosalie E

Current opinion in pediatrics

2015 Volume 27, Issue 1, Page(s) 26–33

Abstract: Purpose of review: Over the past decade, substantial insight into the biological function of the tumor suppressors neurofibromin (NF1) and Merlin (NF2) has been gained. The purpose of this review is to highlight some of the major advances in our ... ...

Abstract	Purpose of review: Over the past decade, substantial insight into the biological function of the tumor suppressors neurofibromin (NF1) and Merlin (NF2) has been gained. The purpose of this review is to highlight some of the major advances in our understanding of the biology of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) as they relate to the development of novel therapies for these disorders. Recent findings: The development of increasingly sophisticated preclinical models over the recent years has provided the platform from which to rationally develop molecular targeted therapies for both NF1 and NF2-related tumors, such as within the Department of Defense-sponsored Neurofibromatosis Clinical Trials Consortium. Summary: Clinical trials with molecular-targeted therapies have become a reality for neurofibromatosis patients, and hold substantial promise for improving the morbidity and mortality of individuals affected with these disorders.
MeSH term(s)	Antineoplastic Agents/therapeutic use ; Child ; Child, Preschool ; Clinical Trials as Topic ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Humans ; Infant ; Magnetic Resonance Imaging ; Molecular Targeted Therapy/trends ; Nerve Sheath Neoplasms/genetics ; Nerve Sheath Neoplasms/pathology ; Nerve Sheath Neoplasms/therapy ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/pathology ; Neurofibromatosis 1/therapy ; Neurofibromatosis 2/genetics ; Neurofibromatosis 2/pathology ; Neurofibromatosis 2/therapy ; Neurofibromin 1/genetics ; Neurofibromin 1/metabolism ; Neurofibromin 2/genetics ; Peripheral Nervous System Neoplasms/genetics ; Peripheral Nervous System Neoplasms/pathology ; Peripheral Nervous System Neoplasms/therapy ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Skin Neoplasms/therapy
Chemical Substances	Antineoplastic Agents ; Neurofibromin 1 ; Neurofibromin 2
Language	English
Publishing date	2015-02
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1049374-8
ISSN	1531-698X ; 1040-8703
ISSN (online)	1531-698X
ISSN	1040-8703
DOI	10.1097/MOP.0000000000000169
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Article: Neurofibromatosis 1.

Ferner, Rosalie E

European journal of human genetics : EJHG

2007 Volume 15, Issue 2, Page(s) 131–138

Abstract: Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated ... ...

Abstract	Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis. Positron emission tomography has demonstrated that sophisticated imaging techniques have a role in diagnosing complex problems like malignant peripheral nerve sheath tumours, while the prospect of targeted therapies for Nf1 complications is tantalisingly close.
MeSH term(s)	Genes, Neurofibromatosis 1/physiology ; Humans ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/pathology
Language	English
Publishing date	2007-02
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/sj.ejhg.5201676
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Article: Neurofibromatosis type 1 (NF1): diagnosis and management.

Ferner, Rosalie E / Gutmann, David H

Handbook of clinical neurology

2013 Volume 115, Page(s) 939–955

Abstract: Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the ... ...

Abstract	Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on chromosome 17q11.2 and neurofibromin, the NF1 protein, controls cell growth and proliferation by regulating the proto-oncogene Ras and cyclic adenosine monophosphate (AMP). Advances in molecular biology and mouse models of disease have enhanced our understanding of the pathogenesis of NF1 complications and facilitated targeted therapy. Progress has been made in developing robust clinical and radiological outcome measures and clinical trials are underway for children with learning difficulties and for individuals with symptomatic plexiform neurofibromas.
MeSH term(s)	Animals ; Disease Models, Animal ; Humans ; Mice ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/therapy ; Neurofibromin 1/genetics
Chemical Substances	Neurofibromin 1
Language	English
Publishing date	2013
Publishing country	Netherlands
Document type	Journal Article ; Review
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-444-52902-2.00053-9
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Article: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective.

Ferner, Rosalie E

The Lancet. Neurology

2007 Volume 6, Issue 4, Page(s) 340–351

Abstract: Historically, neurofibromatosis 1 (NF1) has been inextricably linked with neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous disorders that have high de novo mutation rates and carry a high risk of tumour formation. However, ... ...

Abstract	Historically, neurofibromatosis 1 (NF1) has been inextricably linked with neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous disorders that have high de novo mutation rates and carry a high risk of tumour formation. However, they are clinically and genetically distinct diseases and should be considered as seperate entities. NF1 is a common disease that mainly affects the skin and peripheral nervous system and causes characteristic bony dysplasia. By contrast, NF2 is a rare disorder with a relative paucity of skin manifestations and high-grade malignancy is unusual. Neurological symptoms are the predominant problem and the cardinal sign is bilateral vestibular schwannomas. In this Review, I discuss the pertinent diagnostic, clinical, and genetic symptoms of NF1 and NF2. I also examine the current views on the pathogenesis of these neurocutaneous disorders in the wake of advances in molecular genetics and the development of mouse models of disease.
MeSH term(s)	Cognition Disorders/genetics ; Cognition Disorders/pathology ; Cognition Disorders/physiopathology ; Diagnosis, Differential ; Disease Progression ; Genetic Predisposition to Disease/genetics ; Humans ; Neurilemmoma/genetics ; Neurilemmoma/pathology ; Neurilemmoma/physiopathology ; Neurofibroma, Plexiform/genetics ; Neurofibroma, Plexiform/pathology ; Neurofibroma, Plexiform/physiopathology ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/genetics ; Neurofibromatosis 1/physiopathology ; Neurofibromatosis 2/diagnosis ; Neurofibromatosis 2/genetics ; Neurofibromatosis 2/physiopathology ; Peripheral Nerves/pathology ; Peripheral Nerves/physiopathology
Language	English
Publishing date	2007-04
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2081241-3
ISSN	1474-4422
ISSN	1474-4422
DOI	10.1016/S1474-4422(07)70075-3
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