Literature DB >> 22105938

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Miriam J Smith1, Anjana Kulkarni, Cecilie Rustad, Naomi L Bowers, Andrew J Wallace, Susan E Holder, Arvid Heiberg, Richard T Ramsden, D Gareth Evans.   

Abstract

Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2). Diagnostic criteria have been developed to distinguish schwannomatosis from NF2, but the existence of mosaic NF2, which may closely mimic schwannomatosis, makes even these criteria problematic. In particular, it is not clear why there is a relative sparing of the cranial nerves from schwannomas in schwannomatosis. We have identified two individuals with schwannomatosis and a unilateral vestibular schwannoma (VS), where a diagnosis of NF2 has been excluded. A third case with an identified SMARCB1 mutation was reported by two radiologists to have a VS, but this was later confirmed as a jugular schwannoma. These cases question whether the current exclusion of a VS from the clinical diagnosis of schwannomatosis is justified.
Copyright © 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID: 22105938     DOI: 10.1002/ajmg.a.34376

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  24 in total

1.  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

2.  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

3.  Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).

Authors:  Martino Ruggieri; Andrea D Praticò; Rosario Caltabiano; Agata Polizzi
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

4.  Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al.

Authors:  Trine E Prescott; Miriam J Smith; D Gareth Evans
Journal:  Neurogenetics       Date:  2011-12-28       Impact factor: 2.660

5.  A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Authors:  Rosario Caltabiano; Gaetano Magro; Agata Polizzi; Andrea Domenico Praticò; Andrea Ortensi; Valerio D'Orazi; Andrea Panunzi; Pietro Milone; Luigi Maiolino; Francesco Nicita; Gabriele Lorenzo Capone; Roberta Sestini; Irene Paganini; Mariella Muglia; Sebastiano Cavallaro; Salvatore Lanzafame; Laura Papi; Martino Ruggieri
Journal:  Childs Nerv Syst       Date:  2017-04-01       Impact factor: 1.475

Review 6.  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

Review 7.  Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.

Authors:  Shivani Ahlawat; Jaishri O Blakeley; Shannon Langmead; Allan J Belzberg; Laura M Fayad
Journal:  Skeletal Radiol       Date:  2019-08-08       Impact factor: 2.199

8.  Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.

Authors:  Martino Ruggieri; Andrea D Praticò; Agostino Serra; Luigi Maiolino; Salvatore Cocuzza; Rosario Caltabiano; Agata Polizzi
Journal:  Childs Nerv Syst       Date:  2016-09-26       Impact factor: 1.475

9.  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Authors:  Arkadiusz Piotrowski; Jing Xie; Ying F Liu; Andrzej B Poplawski; Alicia R Gomes; Piotr Madanecki; Chuanhua Fu; Michael R Crowley; David K Crossman; Linlea Armstrong; Dusica Babovic-Vuksanovic; Amanda Bergner; Jaishri O Blakeley; Andrea L Blumenthal; Molly S Daniels; Howard Feit; Kathy Gardner; Stephanie Hurst; Christine Kobelka; Chung Lee; Rebecca Nagy; Katherine A Rauen; John M Slopis; Pim Suwannarat; Judith A Westman; Andrea Zanko; Bruce R Korf; Ludwine M Messiaen
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330

10.  Clinical features of schwannomatosis: a retrospective analysis of 87 patients.

Authors:  Vanessa L Merker; Sonia Esparza; Miriam J Smith; Anat Stemmer-Rachamimov; Scott R Plotkin
Journal:  Oncologist       Date:  2012-08-27
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