Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations

摘要: Aims The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in cohort patients with sporadic phaeochromocytoma/paraganglioma. Methods Phaeochromocytoma/paragangliomas from 25 were analysed by targeted next-generation approach using an Ion Torrent PGM instrument. Primers 15 genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) designed ion ampliseq designer. Reporter software and Ingenuity® Variant Analysis™ (www.ingenuity.com/variants) Ingenuity Systems used analysis these results. Results Overall, 713 variants identified. identified the ranged 64 161 per patient. Single nucleotide (SNV) most common. Further annotation help variant revealed 29 713variants deletions. Of these, six non-pathogenic four likely be pathogenic. remaining 19 uncertain significance. frequently altered gene KIF1B followed NF1. Novel pathogenic c.3375 + 1G > A mutation noted patient clinically confirmed neurofibromatosis. Chromosome 1 showed presence maximum number variants. Conclusions Use is sensitive method detecting genetic changes precise detection helps understanding pathogenesis tumours.