dc.contributor.author | Pillai, Suja | |
dc.contributor.author | Gopalan, Vinod | |
dc.contributor.author | Lo, Chung Y | |
dc.contributor.author | Liew, Victor | |
dc.contributor.author | Smith, Robert A | |
dc.contributor.author | Lam, Alfred King Y | |
dc.date.accessioned | 2017-07-25T12:30:32Z | |
dc.date.available | 2017-07-25T12:30:32Z | |
dc.date.issued | 2017 | |
dc.identifier.issn | 0014-4800 | |
dc.identifier.doi | 10.1016/j.yexmp.2016.12.007 | |
dc.identifier.uri | http://hdl.handle.net/10072/342186 | |
dc.description.abstract | Aims: 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.peerreviewed | Yes | |
dc.language | English | |
dc.language.iso | eng | |
dc.publisher | Elsevier | |
dc.relation.ispartofpagefrom | 41 | |
dc.relation.ispartofpageto | 46 | |
dc.relation.ispartofjournal | Experimental and Molecular Pathology | |
dc.relation.ispartofvolume | 102 | |
dc.subject.fieldofresearch | Clinical sciences | |
dc.subject.fieldofresearch | Clinical sciences not elsewhere classified | |
dc.subject.fieldofresearchcode | 3202 | |
dc.subject.fieldofresearchcode | 320299 | |
dc.title | Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations | |
dc.type | Journal article | |
dc.type.description | C1 - Articles | |
dc.type.code | C - Journal Articles | |
gro.faculty | Griffith Health, School of Medicine | |
gro.hasfulltext | No Full Text | |
gro.griffith.author | Lam, Alfred K. | |
gro.griffith.author | Gopalan, Vinod | |