Literature DB >> 16421138

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

A J Murray1, T A T Hughes, J W Neal, E Howard, D G R Evans, P S Harper.   

Abstract

A 54 year old man presented with numerous cutaneous schwannomas, cranial nerve lesions, and spinal cord lesions, but no evidence of vestibular nerve involvement. There was no family history of neurocutaneous lesions. To help discriminate between the various possible diagnoses in this patient, molecular analysis of two cutaneous schwannomas was undertaken. An identical point mutation in the NF2 gene in the two anatomically distinct tumours was found, confirming this as a case of NF2 mosaicism.

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Year:  2006        PMID： 16421138      PMCID： PMC2077573          DOI： 10.1136/jnnp.2005.067017

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  10 in total

1.  Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.

Authors:  A Moyhuddin; M E Baser; C Watson; S Purcell; R T Ramsden; A Heiberg; A J Wallace; D G R Evans
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

Review 2.  Schwannomatosis: a clinical and pathologic study.

Authors:  M MacCollin; W Woodfin; D Kronn; M P Short
Journal:  Neurology       Date:  1996-04       Impact factor: 9.910

3.  Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

Authors:  L B Jacoby; D Jones; K Davis; D Kronn; M P Short; J Gusella; M MacCollin
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

4.  Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.

Authors:  D G Evans; S Mason; S M Huson; M Ponder; A E Harding; T Strachan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

5.  Somatic instability of the NF2 gene in schwannomatosis.

Authors:  David L Kaufman; Bianca S Heinrich; Christine Willett; Arie Perry; Frederick Finseth; Raymond A Sobel; Mia MacCollin
Journal:  Arch Neurol       Date:  2003-09

6.  Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis.

Authors:  T Shishiba; M Niimura; F Ohtsuka; N Tsuru
Journal:  J Am Acad Dermatol       Date:  1984-05       Impact factor: 11.527

7.  Multiple schwannomas: schwannomatosis or neurofibromatosis type 2?

Authors:  M T Seppälä; M A Sainio; M J Haltia; J J Kinnunen; K H Setälä; J E Jääskeläinen
Journal:  J Neurosurg       Date:  1998-07       Impact factor: 5.115

8.  Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity?

Authors:  S M Purcell; S L Dixon
Journal:  Arch Dermatol       Date:  1989-03

9.  Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.

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Review 10.  Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors.

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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 2.  News on the genetics, epidemiology, medical care and translational research of Schwannomas.

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Journal:  J Neurol       Date:  2006-12       Impact factor: 4.849

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

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4.  Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.

Authors:  D Gareth R Evans; R T Ramsden; A Shenton; C Gokhale; N L Bowers; S M Huson; G Pichert; A Wallace
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6.  Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.

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8.  Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.

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  10 in total

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