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NF2 Gene Deletion

MedGen UID:
1756504
•Concept ID:
C5420426
•
Cell or Molecular Dysfunction
Synonyms: ACN Gene Deletion; BANF Gene Deletion; Merlin Gene Deletion; Neurofibromin 2 Gene Deletion; NF-2 Gene Deletion; NF2 Deletion; SCH Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the NF2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNF2 Gene Deletion

Professional guidelines

PubMed

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.
Smith MJ, Wallace AJ, Bowers NL, Eaton H, Evans DG
Cancer Genet 2014 Sep;207(9):373-8. Epub 2014 Apr 8 doi: 10.1016/j.cancergen.2014.04.001. PMID: 24933152
Neurofibromatosis type 2 (NF2): diagnosis and management.
Lloyd SK, Evans DG
Handb Clin Neurol 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0. PMID: 23931824
Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG
Clin Genet 2010 Feb;77(2):163-70. Epub 2009 Nov 23 doi: 10.1111/j.1399-0004.2009.01315.x. PMID: 19968670

Recent clinical studies

Etiology

Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma.
Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129
Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.
Begnami MD, Palau M, Rushing EJ, Santi M, Quezado M
Hum Pathol 2007 Sep;38(9):1345-50. Epub 2007 May 23 doi: 10.1016/j.humpath.2007.01.027. PMID: 17509660Free PMC Article
Evaluation of NF2 gene deletion in pediatric meningiomas using chromogenic in situ hybridization.
Begnami MD, Rushing EJ, Santi M, Quezado M
Int J Surg Pathol 2007 Apr;15(2):110-5. doi: 10.1177/1066896906299128. PMID: 17478763

Diagnosis

Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma.
Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129

Prognosis

Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma.
Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129

Clinical prediction guides

Hemizygous loss of NF2 detected by fluorescence in situ hybridization is useful for the diagnosis of malignant pleural mesothelioma.
Kinoshita Y, Hamasaki M, Yoshimura M, Matsumoto S, Iwasaki A, Nabeshima K
Mod Pathol 2020 Feb;33(2):235-244. Epub 2019 Jun 23 doi: 10.1038/s41379-019-0309-6. PMID: 31231129
Evaluation of NF2 gene deletion in sporadic schwannomas, meningiomas, and ependymomas by chromogenic in situ hybridization.
Begnami MD, Palau M, Rushing EJ, Santi M, Quezado M
Hum Pathol 2007 Sep;38(9):1345-50. Epub 2007 May 23 doi: 10.1016/j.humpath.2007.01.027. PMID: 17509660Free PMC Article

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