A study of meningiomas in South Africa: Investigating a correlation between clinical presentation, histopathology and genetic markers

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dc.contributor.authorVivier J.
dc.contributor.authorBardien S.
dc.contributor.authorVan Der Merwe L.
dc.contributor.authorBrusnicky J.
dc.contributor.authorZaharie D.
dc.contributor.authorKeyser R.
dc.contributor.authorHewlett R.
dc.contributor.authorDe Jong G.
dc.contributor.authorHartzenberg B.
dc.date.accessioned2011-05-15T16:15:47Z
dc.date.available2011-05-15T16:15:47Z
dc.date.issued2009
dc.description.abstractObjective. To determine whether there are certain genetic markers which correlate with particular clinical characteristics of meningiomas including multiplicity, recurrence and calvarial erosion. Methods. Thirty-eight South African-born patients with meningiomas were recruited for this study. At surgery, blood and tumour specimens were obtained for histopathological, cytogenetic and molecular analysis. Loss of heterozygosity (LOH) on chromosomes 1p and 22q were investigated and the NF2 gene on 22q12.2 was screened for disease-causing mutations. Results. The commonest tumour locations were convexity (25%) and parasagittal (21%). The histology results showed that 86.8% of the patients had Grade I tumours and the remainder had Grade II tumours. A pathogenic nonsense mutation, R341X in the NF2 gene was found in only one patient. LOH on each of chromosomes 1p and 22q was observed in 44.7% of patients, but in different individuals. Significant associations were found between having specific tumour characteristics and both male gender (p-value = 0.0059) and 22q LOH (p-value = 0.0425). We estimated that having 22q LOH makes an individual approximately four times more likely to develop a tumour that exhibits multiplicity, recurrence or calvarial erosion (OR = 4.8; 95% CI: 1.2-23.4). Adjusting for gender strengthened this effect (OR = 6.1; 95% CI: 1.1-48.7). Conclusions. Our data indicate that male patients and patients with a meningioma that has 22q LOH are more likely to develop tumours exhibiting multiplicity, recurrence or calvarial erosion. We recommend that this subset of patients should be followed up more closely. Further study is needed to determine the benefit of adjuvant radiation therapy in this scenario. © The Neurosurgical Foundation.
dc.description.versionArticle
dc.identifier.citationBritish Journal of Neurosurgery
dc.identifier.citation23
dc.identifier.citation1
dc.identifier.issn02688697
dc.identifier.other10.1080/02688690802593064
dc.identifier.urihttp://hdl.handle.net/10019.1/13487
dc.subjectadolescent
dc.subjectadult
dc.subjectaged
dc.subjectarticle
dc.subjectblood
dc.subjectchromosome 1p
dc.subjectchromosome 22q
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectconfidence interval
dc.subjectcorrelation analysis
dc.subjectcytogenetics
dc.subjecterosion
dc.subjectfemale
dc.subjectfollow up
dc.subjectgender
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic marker
dc.subjectgenetic screening
dc.subjectheterozygosity loss
dc.subjecthistology
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectmale
dc.subjectmeningioma
dc.subjectnf2 gene
dc.subjectnonsense mutation
dc.subjectnucleotide sequence
dc.subjectpriority journal
dc.subjectrisk assessment
dc.subjectSouth Africa
dc.subjecttumor
dc.subjecttumor localization
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectChromosomes, Human, Pair 22
dc.subjectFemale
dc.subjectGenetic Markers
dc.subjectHumans
dc.subjectMale
dc.subjectMeningeal Neoplasms
dc.subjectMeningioma
dc.subjectMiddle Aged
dc.subjectRegression Analysis
dc.subjectSex Factors
dc.subjectSouth Africa
dc.subjectYoung Adult
dc.titleA study of meningiomas in South Africa: Investigating a correlation between clinical presentation, histopathology and genetic markers
dc.typeArticle
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