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A new method for early cancer detection in RDEB via liquid biopsy?

New scientific article from the Piñon/Gruber Working Group

For decades, it has been known that tumor cells release bits of material that can enter the bloodstream. However, specific detection of such tumor-derived materials in the blood has been possible only with recent technological advances. Researchers at the EB House are now seeking to develop new methods to detect skin cancer that arises in patients with recessive dystrophic EB (RDEB), by exploiting tumor-specific extracellular vesicles (EVs) for liquid biopsy. EVs are bubble-like, nano-sized particles that are shed from cells and are then detectable in the blood. EVs carry molecules specific to their cell of origin. Thus, tumor-derived EVs will carry tumor-specific markers, molecules that are preferentially found in cancer cells, and can be exploited for cancer detection. Because RDEB patients develop aggressive squamous cell carcinoma (SCC) at sites of chronic wounds, these tumors are difficult to distinguish with the naked eye. Reliable diagnosis currently requires tissue analysis of a skin biopsy. A main advantage of liquid biopsies is that they are non-invasive and more easily repeatable than conventional tissue biopsies. This makes them highly practical in conditions that require regular monitoring. Together with cooperation partners in Japan, EB House scientists were able to identify a tumor marker named Ct-SLCO1B3 (also called Ct-OATP1B3 RNA)*, which was first described in colon cancer cells, and is also found in RDEB tumor cells. The researchers then explored the potential of using this tumor marker to detect the presence of cancer cells. First, they showed that Ct-SLCO1B3 was present in EVs from cultured tumor cells, whereas EVs harvested from normal cells did not carry the marker. These findings, published in the journals Biological and Pharmaceutical Bulletin and Journal of Investigative Dermatology, lay the groundwork for the development of a liquid biopsy approach for detecting SCC in RDEB patients, which may prove more rapid and less invasive than skin biopsy.

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* This tumor marker was used in another study to test a cancer therapy. See article: "Trans-splicing-mediated tumor therapy approach: cancer cells forced to commit suicide"

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