Detection of gene mutations

29th May 2014

EKF Molecular Diagnostics, and GILUPI, an innovator in medical devices for in vivo isolation of rare cells directly from a patient’s blood stream, has announced results from collaborative work using GILUPI CellCollector and EKF Molecular’s PointMan DNA Enrichment technology.

The first results of a collaboration between EKF Molecular Diagnostics and GILUPI have demonstrated the detection of gene mutations from as few as three or less cells isolated in a model in vitro system and from the blood of lung cancer patients.  

PointMan DNA Enrichment was used to detect and analyse cells with known mutation status that had been collected on GILUPI CellCollectors under laboratory conditions. The known mutations were those typically seen in lung (EGFR) and colorectal (KRAS) cancer. Positive results using PointMan assays for KRAS (codon 12/13) and EGFR (T790M and L858R) from cell lines with known mutations and patients were confirmed by Sanger sequencing and showed conformance with known mutation status.

Andy Webb, CEO of EKF Molecular Diagnostics, said: “These results are a clear indication of the utility of PointMan DNA enrichment on low cell numbers, in this case those isolated using the GILUPI CellCollector both in vitro and in vivo."

He added: ”Indeed, these new results compliment previous work on circulating free DNA using PointMan detection, which was performed by the Institute of Life Sciences, Swansea, UK, using samples archived in the Wales Cancer Bank. The GILUPI and Swansea collaborations focus on the unmet requirements for patient monitoring from peripheral samples, negating the requirement for a surgical procedure to obtain a tissue biopsy for early cancer screening, diagnosis and during disease progression.”

Klaus Luecke, CEO and co-founder of GILUPI, said: “The isolation and subsequent characterisation of low numbers of circulating tumour cells from the blood of cancer patients will become increasingly important as a liquid biopsy as a method to monitor disease progression and response to therapy. We hope that less-invasive and more frequent testing will become routine using our combined technologies with significant patient benefits.  GILUPI is looking forward to further cooperation with EKF Molecular Diagnostics to continue to build the evidence base for the combined technologies.”


PointMan provides a highly sensitive determination of the presence or absence of a mutation in the DNA sequence. Mutations are associated with diseases such as cancer and importantly the patient’s response to treatment, known as personalised healthcare.

PointMan works by targeting the PCR (polymerase chain reaction) towards the mutant sequence whilst suppressing the amplification of the non-mutated (wild type) sequence and this means that these enriched samples contain artificially high levels of mutated DNA, significantly enhancing detection. This drives the sensitivity of the PointMan technology far beyond existing PCR technology (PointMan can detect 1 mutant gene in 10,000 normal gene copies against competing technologies that detects 1 in 100).

PointMan maximises the use of smaller biopsy samples as well as allowing multiplexing of mutations in a single test rather than many individual tests as current competing technologies do.

 GILUPI CellCollector​ 

The process of the GILUPI CellCollector production is based on the generation of biocompatible surface polymers, which prevent undesirable interactions with blood components and which can bind antibodies. Thus, they enable the enrichment of specific target cells from the blood.

Cancer is often detected at a relatively late stage. Furthermore, cancer is a mixture of heterogeneous cells, which undergo molecular changes over the duration of the disease. This is not always detectable by current biopsy procedures. Individual oncological targeted therapies will become more and more important in tomorrow’s personalised medicine.

The identification of the right drug for the specific patient is the upcoming challenge. The fundamental problem with cancer patients is the systematic nature of the disease – not the localised tumour. Metastatic dissemination is the main cause of death by cancer, primarily due to its deterrent effect on successful treatment.

To address the mentioned unmet medical need circulating tumour cells (CTCs) are highly discussed as liquid biopsy. CTCs are cells which detach from the primary tumour and travel through the circulation. The significance of CTCs in relation to predicting the prognosis has been shown in numerous clinical studies. CTCs can reflect molecular alterations of the tumour in the course of the disease. 

The characterisation of these cells can enable physicians to immediately respond and to tailor the therapy for the individual conditions of the patient. 

The GILUPI CellCollector directly detects CTCs in vivo in the blood stream, with the advantage of screening high volume of blood. In clinical studies, CTCs were detected in 70 per cent of the GILUPI CellCollector applications in lung, breast, colorectal and prostate cancer patients. 





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