Detecting mutations relevant for treatment decisions in single cells

Detection of mutations relevant for treatment decisions

Detection of specific genetic mutations in cancer-associated genes is a prerequisite for the use of numerous targeted therapies. Therefore, knowing the mutation profile of a tumor is a valuable resource when it comes to making the right treatment decision. The FDA-approved MSK-IMPACT assay with its more than 400 cancer-associated genes offers a low-cost approach here. Disseminated and circulating tumor cells differ from the primary tumor. It is thus important for diagnosis and disease monitoring to also screen these cells for mutations and assess their impact. This is why Fraunhofer ITEM researchers in Regensburg, in collaboration with colleagues from the University of Regensburg and the company quantiom bioinformatics, have adapted the IMPACT approach for use with single cells.

Disseminated tumor cells differ from the primary tumor. It is therefore important to screen these disseminated single cells (as shown here on the screen) for mutations to allow the therapy to be adjusted accordingly.

In terms of bioinformatics, this was a major challenge, because the cells to be analyzed are so unique that there is no closely related cell population that could be used for corrections to sort out the expected high number of false-positive mutations. Using specific classifiers and combined database queries, the cooperation partners have nevertheless been able to achieve a reliability comparable to that reached with tissues – an important step forward towards getting the method approved.


Jens  Warfsmann

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Dr. Jens Warfsmann

Manager of the Working Group on Bioinformatics and Data Management

Phone +49 941 298480-28