DOI: 10.1101/481622Nov 30, 2018Paper

Liquid biopsy in gastrointestinal stromal tumors — Simultaneous detection of primary and secondary mutations with an NGS based circulating tumor DNA assay

BioRxiv : the Preprint Server for Biology
Nagavalli SomasundaramSarah B Ng


PURPOSE: Gastrointestinal stromal tumors (GISTs) are characterized by primary mutations (PM) in KIT or PDGFRA genes. Under pharmacological pressure secondary mutations (SM) develop resulting in resistance to treatment. Our group developed a multiplex-amplicon sequencing assay that can detect PM and SM simultaneously in the plasma samples of patients with GIST, at a variant allele frequency of 0.1%. This assay was also designed to optimize detection of exon 11 mutations. PATIENTS AND METHODS: The assay was applied on 238 plasma samples obtained from 65 GIST patients. Clinical data and plasma samples were obtained from a prospective institutional database. Among the 65 patients, 34 had metastatic disease, 4 were on neoadjuvant treatment and 27 had curative surgery followed by adjuvant treatment or surveillance. There were no prespecified timepoints of plasma collection in this study. CtDNA results were correlated with clinical and radiological data. RESULTS: Overall, there was 89% concordance in detection of exon 11 mutations in tissue and plasma. 100% concordance was demonstrated for exons 9,13 and 17. The assay had a sensitivity of 75% and specificity of 94% in detecting mutations in the appropriate clinical context in the meta...Continue Reading

Related Concepts

Biological Markers
Neoplasm Metastasis
Gastrointestinal Stromal Tumors
Disease Progression
Infection Surveillance

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