Details

Autor(en) / Beteiligte

• Smith, Miriam J
• Bowers, Naomi L
• Bulman, Michael
• Gokhale, Carolyn
• Wallace, Andrew J
• King, Andrew T
• Lloyd, Simon K L
• Rutherford, Scott A
• Hammerbeck-Ward, Charlotte L
• Freeman, Simon R
• Evans, D Gareth

Titel

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Ist Teil von

• Neurology, 2017-01, Vol.88 (1), p.87-92

Ort / Verlag

United States

Erscheinungsjahr

2017

Quelle

MEDLINE

Beschreibungen/Notizen

• To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors. We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas. Overall, 5/70 (7%) individuals with unilateral VS and at least 2 other schwannomas had a pathogenic or likely pathogenic LZTR1 mutation. Twenty of the 70 subsequently developed bilateral disease. Of the remaining 50, 5 (10%) had a germline LZTR1 mutation, equivalent to the number (n = 5) with a germline NF2 mutation. The most common etiology for unilateral VS and 2 additional NF2-associated tumors in this cohort was mosaic NF2. Germline LZTR1 and germline NF2 mutations were equally common in our cohort. This indicates that LZTR1 must be considered when making a diagnosis of NF2 in the presence of unilateral VS in individuals without a germline NF2 mutation.