Detailed cancer diagnostics with new analysis method

New cancer treatments require good prior characterization of the tumour. Today, molecular diagnostics is time-consuming work, and important knowledge is still lacking when it comes to how drugs should best be used for individual patients. Scientists at the Science for Life Laboratory in Uppsala and Stockholm have now developed a new technique for discovering mutations in cancer tissues. The study is now published in Oncotarget.


For a therapy involving new cancer medicines to be effective, the mutation status of the tumour must be known. Today DNA is extracted from tumour sections and examined using DNA analysis techniques, after the cancer diagnosis has been determined. This method is laborious, and samples with low levels of mutated cancer cells can be missed in the background of DNA from non-mutated cells.

With the new technology, mutations are visualised directly in cancer cells in sections from the tumour tissue and can be evaluated under a microscope by the pathologist making the cancer diagnosis. The technique is insensitive to the level of mutated cancer cells in the sample, and the information about mutations can be linked directly to the way the tumour cells are growing in the tissue sample.

“One interesting application for the technology is that you can discover small groups of cancer cells with mutations that render them unresponsive to certain cancer drugs, and adapt the cancer treatment accordingly”, says Johan Botling.

The researchers tested the new technique on a large number of clinical samples, and their evaluation indicated that it yields correct results. The method can both simplify and enhance cancer diagnostics and thereby lead to more effective cancer treatment.


In situ mutation detection and visualization of intratumor heterogeneity for cancer research and diagnostics.

Grundberg I, Kiflemariam S, Mignardi M, Imgenberg-Kreuz J, Edlund K, Micke P, Sundström M, Sjöblom T, Botling J, Nilsson M.

Oncotarget, online 21 November 2013.

Read the scientific article

Press release from SU (Swedish)


Last updated: 2013-12-03

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