Abstract
During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics.
Highlights
During cancer formation and progression, cell populations with distinct genetic aberrations arise that represent unique clinical entities harbouring specific therapeutic targets [1,2]
For whole genome amplification (WGA), non-fixed or slightly fixed cells were collected from the glass surface using a micromanipulator equipped with a capillary designed to our specific requirements
It has been speculated that only a small proportion of these cells show specific ‘‘stem cell – like’’ features and may give rise to metastases
Summary
During cancer formation and progression, cell populations with distinct genetic aberrations arise that represent unique clinical entities harbouring specific therapeutic targets [1,2]. A prominent example is the gene locus of the epidermal growth factor receptor (EGFR), which is a key player in tumor biology and an important target for individualized cancer therapy. Most tumors can be completely removed by surgery and are unavailable for repeated sampling to monitor either treatment response or treatment-induced changes in genomic aberrations or disease progression, respectively. These crucial processes can be assessed by the detection of blood-borne cancer cells or disseminated tumor cells (DTCs) in bone marrow, as prominent homing organ and major site of overt metastases in cancer patients. The molecular analysis of these cells may reveal unique information to tailor therapies preventing metastatic progression [4,5]
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