Assessment of the Ion AmpliSeq™ Cancer Hotspot Panel. Clinical utility in the management of adult patients with solid tumors from different origin

      Аннотация: Ion AmpliSeq™ Cancer Hotspot Panel is a NGS technology designed to provide highly sensitive and quantitative mutation detection in hotspot region of 50 oncogenes and tumor suppressor genes using a little amount of DNA from FFPE samples. The purpose of this research was to emphasize the significance of a deep and broad data analysis of the recurrent mutations in different hotspot regions in different types of solid tumors through the examination of data coming from the Ion AmpliSeq™ Cancer Hotspot Panel. Data analysis was done using Ion reporter software and the IGV genome browser, as well as available resources that provide information on human gene annotations and their potential role as pathogenic biomarker, as well as information about drug treatment. Toward this end, seventeen samples of patients with different tumor types were evaluated following an precise workflow from sample preparation to the data analysis and data interpretation for clinical decision making. In order to facilitate the identification of variants that are actionable for patient management in oncology, a designed protocol and classification system were used to filter, classify and evaluate the impact.

Ключевые слова: Cancer, somatic mutation, NGS, Formalin fixed paraffin- embedded, Semiconductor-Based Sequencing, Integrated genome viewer