Literature DB >> 33445724

Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.

Suha Bachir1, Sanjit Shah2, Scott Shapiro3, Abigail Koehler4, Abdelkader Mahammedi5, Ravi N Samy3, Mario Zuccarello2, Elizabeth Schorry1, Soma Sengupta4.   

Abstract

Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression. Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality. In this review, we aim to encompass meningiomas and vestibular schwannomas as they pertain to NF2 by assessing molecular genetics, common tumor types, and tumor pathogenesis.

Entities:  

Keywords:  meningiomas; neurofibromatosis type 2 (NF2); vestibular schwannomas

Mesh:

Year:  2021        PMID: 33445724      PMCID: PMC7828193          DOI: 10.3390/ijms22020690

Source DB:  PubMed          Journal:  Int J Mol Sci        ISSN: 1422-0067            Impact factor:   5.923


  68 in total

1.  Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma.

Authors:  T Kino; H Takeshima; M Nakao; T Nishi; K Yamamoto; T Kimura; Y Saito; M Kochi; J Kuratsu; H Saya; Y Ushio
Journal:  Genes Cells       Date:  2001-05       Impact factor: 1.891

2.  Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Authors:  Camille Louvrier; Eric Pasmant; Audrey Briand-Suleau; Joëlle Cohen; Patrick Nitschké; Juliette Nectoux; Lucie Orhant; Cécile Zordan; Cyril Goizet; Stéphane Goutagny; Dominique Lallemand; Michel Vidaud; Dominique Vidaud; Michel Kalamarides; Béatrice Parfait
Journal:  Neuro Oncol       Date:  2018-06-18       Impact factor: 12.300

3.  Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors.

Authors:  L Kluwe; R E Friedrich; C Hagel; M Lindenau; V F Mautner
Journal:  J Invest Dermatol       Date:  2000-05       Impact factor: 8.551

4.  Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features.

Authors:  Stéphane Goutagny; Alpha Boubacar Bah; Dominique Henin; Béatrice Parfait; Alexis Bozorg Grayeli; Olivier Sterkers; Michel Kalamarides
Journal:  Neuro Oncol       Date:  2012-06-18       Impact factor: 12.300

5.  Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

Authors:  M H Ruttledge; A A Andermann; C M Phelan; J O Claudio; F Y Han; N Chretien; S Rangaratnam; M MacCollin; P Short; D Parry; V Michels; V M Riccardi; R Weksberg; K Kitamura; J M Bradburn; B D Hall; P Propping; G A Rouleau
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

6.  Communicating hydrocephalus and vestibular schwannomas: etiology, treatment, and long-term follow-up.

Authors:  Qasim Al Hinai; Anthony Zeitouni; Denis Sirhan; David Sinclair; Denis Melancon; John Richardson; Richard Leblanc
Journal:  J Neurol Surg B Skull Base       Date:  2013-02-07

7.  Merlin, a tumor suppressor, interacts with transactivation-responsive RNA-binding protein and inhibits its oncogenic activity.

Authors:  Joo Yong Lee; Hongtae Kim; Chung Hun Ryu; Jae Young Kim; Byung Hyune Choi; Young Lim; Pil-Woo Huh; Young-Hoon Kim; Kweon-Haeng Lee; Tae-Youn Jun; Hyung Kyun Rha; Joon-Ki Kang; Chang Rak Choi
Journal:  J Biol Chem       Date:  2004-04-27       Impact factor: 5.157

Review 8.  Poor prognosis associated with TERT gene alterations in meningioma is independent of the WHO classification: an individual patient data meta-analysis.

Authors:  Christian Mirian; Anne Katrine Duun-Henriksen; Tareq Juratli; Felix Sahm; Sabine Spiegl-Kreinecker; Matthieu Peyre; Annamaria Biczok; Jörg-Christian Tonn; Stéphane Goutagny; Luca Bertero; Andrea Daniela Maier; Maria Møller Pedersen; Ian Law; Helle Broholm; Daniel P Cahill; Priscilla Brastianos; Lars Poulsgaard; Kåre Fugleholm; Morten Ziebell; Tina Munch; Tiit Mathiesen
Journal:  J Neurol Neurosurg Psychiatry       Date:  2020-02-10       Impact factor: 10.154

Review 9.  Role of Merlin/NF2 inactivation in tumor biology.

Authors:  A M Petrilli; C Fernández-Valle
Journal:  Oncogene       Date:  2015-04-20       Impact factor: 9.867

Review 10.  An update on the CNS manifestations of neurofibromatosis type 2.

Authors:  Shannon Coy; Rumana Rashid; Anat Stemmer-Rachamimov; Sandro Santagata
Journal:  Acta Neuropathol       Date:  2019-06-04       Impact factor: 17.088

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  7 in total

1.  Coexistence of meningioma and other intracranial benign tumors in non-neurofibromatosis type 2 patients: A case report and review of literature.

Authors:  Tian-Hao Hu; Run Wang; Hai-Yun Wang; Yi-Fu Song; Juan-Han Yu; Zi-Xun Wang; Yu-Zhou Duan; Ting Liu; Sheng Han
Journal:  World J Clin Cases       Date:  2022-05-06       Impact factor: 1.534

2.  Consensus core clinical data elements for meningiomas (v2021.1).

Authors:  Farshad Nassiri; Justin Z Wang; Karolyn Au; Jill Barnholtz-Sloan; Michael D Jenkinson; Kate Drummond; Yueren Zhou; James M Snyder; Priscilla Brastianos; Thomas Santarius; Suganth Suppiah; Laila Poisson; Francesco Gaillard; Mark Rosenthal; Timothy Kaufmann; Derek S Tsang; Kenneth Aldape; Gelareh Zadeh
Journal:  Neuro Oncol       Date:  2022-05-04       Impact factor: 13.029

Review 3.  Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.

Authors:  Alessio Ardizzone; Anna Paola Capra; Michela Campolo; Alessia Filippone; Emanuela Esposito; Silvana Briuglia
Journal:  Biomedicines       Date:  2022-04-19

Review 4.  Understanding the Molecular Mechanism of Vestibular Schwannoma for Hearing Preservation Surgery: Otologists' Perspective from Bedside to Bench.

Authors:  Makoto Hosoya; Takeshi Wakabayashi; Koichiro Wasano; Takanori Nishiyama; Nobuyoshi Tsuzuki; Naoki Oishi
Journal:  Diagnostics (Basel)       Date:  2022-04-21

5.  The role of gut microbiota in patients with benign and malignant brain tumors: a pilot study.

Authors:  Haixiao Jiang; Wei Zeng; Xiaoli Zhang; Yunlong Pei; Hengzhu Zhang; Yuping Li
Journal:  Bioengineered       Date:  2022-03       Impact factor: 6.832

6.  Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumours of the Ear.

Authors:  Ann Sandison
Journal:  Head Neck Pathol       Date:  2022-04-09

7.  Oculomotor nerve palsy in neurofibromatosis type 2.

Authors:  Aymen Shahab; Hafsa Sardar; Samaa Akhtar; Anam Safdar; Muhammad Ismail Safi; Izaz Ahmad; Faheemullah Khan
Journal:  Radiol Case Rep       Date:  2022-09-09
  7 in total

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