Somatic variant detection in circulating tumor cell (CTC) samples

Introduction

CTC enrichment with IsoFlux™ System, targeted amplification using Ion AmpliSeq™ technology, and sequencing on the Ion PGM™ System enables research into the biology of CTCs. Somatic variant analysis of CTC samples permits the study of cancer disease progression over multiple time points and may help ascertain the recurrent somatic mutations present in CTCs that support a causal role in metastasis; information that would be difficult or impossible to obtain without CTC profiling. Through the study of CTCs, it is hoped that in the future cancer can be classified by metastatic potential in which localized tumor growth—likely to respond to surgery—can be differentiated from rapid metastasizing cancer that would be better treated by non-surgical intervention. Furthermore, profiling of CTCs might be used for patient stratification or for the identification of variants suitable for targeted therapy.

This application note describes a workflow for isolating CTCs using the IsoFlux™ System followed by analysis of somatic variants using the Ion AmpliSeq™ Cancer Hotspot Panel v2, the Ion PGM™ System, and Ion Reporter™ Software.

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