Neurofibromatosis type 2 (NF2): a clinical and molecular review

DGR Evans - Orphanet journal of rare diseases, 2009 - Springer
Abstract Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the
development of multiple schwannomas and meningiomas. Prevalence (initially estimated at …

An update on the diagnosis and treatment of vestibular schwannoma

J Halliday, SA Rutherford, MG McCabe… - Expert review of …, 2018 - Taylor & Francis
Introduction: Vestibular schwannomas (VS) account for approximately 85% of tumors in the
cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are …

The Merlin/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals

N Zhang, H Bai, KK David, J Dong, Y Zheng, J Cai… - Developmental cell, 2010 - cell.com
The conserved Hippo signaling pathway regulates organ size in Drosophila and mammals.
While a core kinase cascade leading from the protein kinase Hippo (Hpo)(Mst1 and Mst2 in …

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 …

Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and progressive vestibular schwannomas

MA Karajannis, G Legault, M Hagiwara… - Neuro …, 2012 - academic.oup.com
This single-institution phase II study was performed to estimate the response rate to lapatinib
in neurofibromatosis type 2 (NF2) patients with progressive vestibular schwannoma (VS) …

Life expectancy in hereditary cancer predisposing diseases: an observational study

A Wilding, SL Ingham, F Lalloo, T Clancy… - Journal of medical …, 2012 - jmg.bmj.com
Background Neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), familial adenomatous
polyposis (FAP), von Hippel-Lindau syndrome (VHL), and Gorlin syndrome (GS) are single …

Merlin, a “magic” linker between the extracellular cues and intracellular signaling pathways that regulate cell motility, proliferation, and survival

I Stamenkovic, Q Yu - Current Protein and Peptide Science, 2010 - ingentaconnect.com
Genetic alterations of neurofibromatosis type 2 (NF2) gene lead to the development of
schwannomas, meningiomas, and ependymomas. Mutations of NF2 gene were also found …

Meningiomas and neurofibromatosis

S Goutagny, M Kalamarides - Journal of neuro-oncology, 2010 - Springer
Abstract Neurofibromatosis type 2 (NF2) is a rare genetic disorder predisposing to multiple
benign tumors of the nervous system. Meningiomas occur in about half of NF2 patients, and …

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 …

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 …