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PubMed:12011146 JSONTXT 11 Projects

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Id Subject Object Predicate Lexical cue
T1 0-100 Sentence denotes Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
T2 101-298 Sentence denotes Neurofibromatosis type 2 (NF2) must be suspected in patients presenting with a unilateral vestibular schwannoma at a young age who are therefore at theoretical risk of developing bilateral disease.
T3 299-410 Sentence denotes We identified 45 patients aged 30 years or less at the onset of symptoms of a unilateral vestibular schwannoma.
T4 411-531 Sentence denotes Molecular genetic analysis of the NF2 gene was completed on peripheral blood samples in all 45 and on 28 tumour samples.
T5 532-604 Sentence denotes No pathogenic NF2 mutations were identified in any of the blood samples.
T6 605-734 Sentence denotes NF2 point mutations were identified in 21/28 (75%) tumour samples and loss of heterozygosity (LOH) in 21/28 (75%) tumour samples.
T7 735-802 Sentence denotes Both mutational hits were identified in 18/28 (65%) tumour samples.
T8 803-987 Sentence denotes In one multilobular tumour, one (presumably first hit) mutation was confirmed which was common to different foci of the tumour, while the second mutational event differed between foci.
T9 988-1176 Sentence denotes The molecular findings in this patient were consistent with somatic mosaicism for NF2 and the clinical diagnosis was confirmed with the presence of two meningiomas on a follow up MRI scan.
T10 1177-1362 Sentence denotes A further patient developed a contralateral vestibular schwannoma on a follow up MRI scan in whom neither of the truncating mutations in the vestibular schwannoma were present in blood.
T11 1363-1598 Sentence denotes It is important when counselling patients with unilateral vestibular schwannomas to identify (1) those at risk of bilateral disease, (2) those at risk of developing other tumours, and (3) other family members at risk of developing NF2.
T12 1599-1759 Sentence denotes Comparing tumour and blood DNA cannot exclude mosaicism in the index case and cannot, therefore, be used to predict those at risk of developing further tumours.
T13 1760-2018 Sentence denotes However, identification of both mutations or one mutation plus LOH in the tumour and exclusion of those mutations in the blood samples of the sibs or offspring of the affected case may be sufficient to render further screening unnecessary in these relatives.