Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

Ferner, Rosalie E

doi:10.1016/s1474-4422(07)70075-3

Cited by 511Neurofibromatosis and Schwannoma CasesHereditary Neurological DisordersNeuroblastoma Research and Treatments

Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

Ferner, Rosalie E·2007·The Lancet Neurology

DOI 10.1016/s1474-4422(07)70075-3

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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.

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Pan-KRAS inhibitors and degraders could be prime choice for cancers driven by wild-type KRAS, such as KRAS wild-type amplified or NF1 loss, and Neurofibromatosis type 1.
“Pan-KRAS inhibitors and degraders could also become the prime choice for cancers driven by wild-type KRAS, such as KRAS wild-type amplified or cancers driven by loss of the NF1 tumor suppressor, as well as Neurofibromatosis type 1 or its associated malignancies (34, 62, 63).”
From Expanding the Reach of Precision Oncology by Drugging All <i>KRAS</i> Mutants (2022) · cites this paper as [62]

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Authors: Ferner, R. E.
Affiliations: Guy's Hospital (GB)
Corresponding author: Ferner, Rosalie E
ORCID: Ferner, Rosalie E
Venue: The Lancet Neurology
Publisher: Elsevier BV
Published: 2007-04
Volume: 6
Issue: 4
Pages: 340-351
ISSN: 1474-4422 (ISSN-L)
DOI: 10.1016/s1474-4422(07)70075-3
OpenAlex: W2092864149
Cited by: 511
References: 121
Citations by year: 2026: 20 · 2025: 12 · 2024: 22 · 2023: 23 · 2022: 19 · 2021: 32 · 2020: 32 · 2019: 27 · 2018: 35 · 2017: 31 · 2016: 23 · 2015: 24 · 2014: 30 · 2013: 25 · 2012: 28
FWCI: 3.94
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Lancet Neurology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Health Sciences › Medicine › Neurology › Neuroblastoma Research and Treatments
Keywords: neurofibromatosis type 1, neurofibromatosis type 2, phakomatoses, autosomal dominant inheritance, de novo mutations, cancer risk, peripheral nervous system, vestibular schwannoma, pathogenesis, molecular genetics, mouse model
MeSH terms: Cognition Disorders, Diagnosis, Differential, Humans, Neurilemmoma, Neurofibromatosis 1, Peripheral Nerves, Neurofibromatosis 2, Neurofibroma, Plexiform, Disease Progression, Genetic Predisposition to Disease

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Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective

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