Literature DB >> 20472658

SMARCB1 mutations are not a common cause of multiple meningiomas.

K D Hadfield1, M J Smith, D Trump, W G Newman, D G Evans.   

Abstract

BACKGROUND: Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They are also found commonly within the general population, unrelated to NF2. Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas. Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas.
METHODS: We screened the SMARCB1 gene in a panel of 47 patients with multiple meningioma unrelated to NF2.
RESULTS: We found no germline mutations.
CONCLUSION: We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease.

Entities:  

Mesh:

Substances:

Year:  2010        PMID: 20472658     DOI: 10.1136/jmg.2009.075721

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  17 in total

1.  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

2.  Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

Authors:  Scott R Plotkin; Jaishri O Blakeley; D Gareth Evans; C Oliver Hanemann; Theo J M Hulsebos; Kim Hunter-Schaedle; Ganjam V Kalpana; Bruce Korf; Ludwine Messiaen; Laura Papi; Nancy Ratner; Larry S Sherman; Miriam J Smith; Anat O Stemmer-Rachamimov; Jeremie Vitte; Marco Giovannini
Journal:  Am J Med Genet A       Date:  2013-02-07       Impact factor: 2.802

Review 3.  Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Authors:  Fausto J Rodriguez; Constantine A Stratakis; D Gareth Evans
Journal:  Acta Neuropathol       Date:  2011-12-31       Impact factor: 17.088

4.  CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Authors:  Brigitte C Widemann; Maria T Acosta; Sylvia Ammoun; Allan J Belzberg; Andre Bernards; Jaishri Blakeley; Antony Bretscher; Karen Cichowski; D Wade Clapp; Eva Dombi; Gareth D Evans; Rosalie Ferner; Cristina Fernandez-Valle; Michael J Fisher; Marco Giovannini; David H Gutmann; C Oliver Hanemann; Robert Hennigan; Susan Huson; David Ingram; Joe Kissil; Bruce R Korf; Eric Legius; Roger J Packer; Andrea I McClatchey; Frank McCormick; Kathryn North; Minja Pehrsson; Scott R Plotkin; Vijaya Ramesh; Nancy Ratner; Susann Schirmer; Larry Sherman; Elizabeth Schorry; David Stevenson; Douglas R Stewart; Nicole Ullrich; Annette C Bakker; Helen Morrison
Journal:  Am J Med Genet A       Date:  2014-01-17       Impact factor: 2.802

5.  Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Authors:  Miriam J Smith; Andrew J Wallace; Naomi L Bowers; Cecilie F Rustad; C Geoff Woods; Guy D Leschziner; Rosalie E Ferner; D Gareth R Evans
Journal:  Neurogenetics       Date:  2012-03-22       Impact factor: 2.660

6.  Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri.

Authors:  Pepijn van den Munckhof; Imke Christiaans; Susan B Kenter; Frank Baas; Theo J M Hulsebos
Journal:  Neurogenetics       Date:  2011-10-26       Impact factor: 2.660

Review 7.  Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.

Authors:  Jaishri O Blakeley; Scott R Plotkin
Journal:  Neuro Oncol       Date:  2016-02-06       Impact factor: 12.300

8.  SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis.

Authors:  Guillaume Rousseau; Tetsuro Noguchi; Violaine Bourdon; Hagay Sobol; Sylviane Olschwang
Journal:  BMC Neurol       Date:  2011-01-24       Impact factor: 2.474

9.  RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.

Authors:  German Melean; Ana Velasco; Elisabete Hernández-Imaz; Francisco Javier Rodríguez-Álvarez; Yolanda Martín; Ana Valero; Concepción Hernández-Chico
Journal:  Neurogenetics       Date:  2012-07-01       Impact factor: 2.660

10.  Loss of SUFU function in familial multiple meningioma.

Authors:  Mervi Aavikko; Song-Ping Li; Silva Saarinen; Pia Alhopuro; Eevi Kaasinen; Ekaterina Morgunova; Yilong Li; Kari Vesanen; Miriam J Smith; D Gareth R Evans; Minna Pöyhönen; Anne Kiuru; Anssi Auvinen; Lauri A Aaltonen; Jussi Taipale; Pia Vahteristo
Journal:  Am J Hum Genet       Date:  2012-09-07       Impact factor: 11.025

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.