[HTML][HTML] The neurofibromatoses

S Farschtschi, VF Mautner, ACL McLean… - Deutsches Ärzteblatt …, 2020 - ncbi.nlm.nih.gov
Background Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the
diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in …

Meningioma

AR Fathi, U Roelcke - Current neurology and neuroscience reports, 2013 - Springer
Meningiomas represent the most common primary brain tumor and comprise 3 World Health
Organization (WHO) grades, the most frequent being WHO grade I (90%). Surgery is …

Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis

JO Blakeley, SR Plotkin - Neuro-oncology, 2016 - academic.oup.com
Abstract Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and
schwannomatosis (SWN) are tumor-suppressor syndromes. Each syndrome is an orphan …

The genetic landscape and possible therapeutics of neurofibromatosis type 2

MA Ghalavand, A Asghari, M Farhadi… - Cancer Cell …, 2023 - Springer
Abstract Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development
of multiple benign tumors in the nervous system. The most common tumors associated with …

Neurofibromatosis type 2: presentation, major complications, and management, with a focus on the pediatric age group

S Ardern-Holmes, G Fisher… - Journal of child …, 2017 - journals.sagepub.com
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1: 33 000-
40 000) characterized by formation of central nervous system tumors, due to mutation in the …

The role of Merlin/NF2 loss in meningioma biology

S Lee, PJ Karas, CC Hadley, JC Bayley V, AB Khan… - Cancers, 2019 - mdpi.com
Mutations in the neurofibromin 2 (NF2) gene were among the first genetic alterations
implicated in meningioma tumorigenesis, based on analysis of neurofibromatosis type 2 …

Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas

S Goutagny, E Raymond, M Esposito-Farese… - Journal of neuro …, 2015 - Springer
Abstract Neurofibromatosis type 2 (NF2) is a genetic disorder with bilateral vestibular
schwannomas (VS) as the most frequent manifestation. Merlin, the NF2 tumor suppressor …

Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas

MA Karajannis, G Legault, M Hagiwara… - Neuro …, 2014 - academic.oup.com
Background Activation of the mammalian target of rapamycin (mTOR) signaling pathway is
thought to be a key driver of tumor growth in Merlin (NF2)-deficient tumors. Everolimus is an …

Recommendations for imaging tumor response in neurofibromatosis clinical trials

E Dombi, SL Ardern-Holmes, D Babovic-Vuksanovic… - Neurology, 2013 - AAN Enterprises
Objective: Neurofibromatosis (NF)-related benign tumors such as plexiform neurofibromas
(PN) and vestibular schwannomas (VS) can cause substantial morbidity. Clinical trials …

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

A Hexter, A Jones, H Joe, L Heap, MJ Smith… - Journal of medical …, 2015 - jmg.bmj.com
Background Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition
syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and …