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dc.contributor.authorPillai, Suja
dc.contributor.authorGopalan, Vinod
dc.contributor.authorLo, Chung Y
dc.contributor.authorLiew, Victor
dc.contributor.authorSmith, Robert A
dc.contributor.authorLam, Alfred King Y
dc.date.accessioned2017-07-25T12:30:32Z
dc.date.available2017-07-25T12:30:32Z
dc.date.issued2017
dc.identifier.issn0014-4800
dc.identifier.doi10.1016/j.yexmp.2016.12.007
dc.identifier.urihttp://hdl.handle.net/10072/342186
dc.description.abstractAims: The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. Methods: Phaeochromocytoma/paragangliomas from 25 patients were analysed by targeted next-generation sequencing approach using an Ion Torrent PGM instrument. Primers for 15 target genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) were designed using ion ampliseq designer. Ion Reporter software and Ingenuity® Variant Analysis™ software (www.ingenuity.com/variants) from Ingenuity Systems were used to analysis these results. Results: Overall, 713 variants were identified. The variants identified from the Ion Reporter ranged from 64 to 161 per patient. Single nucleotide variants (SNV) were the most common. Further annotation with the help of Ingenuity variant analysis revealed 29 of these 713variants were deletions. Of these, six variants were non-pathogenic and four were likely to be pathogenic. The remaining 19 variants were of uncertain significance. The most frequently altered gene in the cohort was KIF1B followed by NF1. Novel KIF1B pathogenic variant c.3375+1GNA was identified. The mutation was noted in a patient with clinically confirmed neurofibromatosis. Chromosome 1 showed the presence of maximum number of variants. Conclusions: Use of targeted next-generation sequencing is a sensitive method for the detecting genetic changes in patients with phaeochromocytoma/paraganglioma. The precise detection of these genetic changes helps in understanding the pathogenesis of these tumours.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofpagefrom41
dc.relation.ispartofpageto46
dc.relation.ispartofjournalExperimental and Molecular Pathology
dc.relation.ispartofvolume102
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchClinical sciences not elsewhere classified
dc.subject.fieldofresearchcode3202
dc.subject.fieldofresearchcode320299
dc.titleSilent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Health, School of Medicine
gro.hasfulltextNo Full Text
gro.griffith.authorLam, Alfred K.
gro.griffith.authorGopalan, Vinod


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