Epigenetic Profiling Test Can Determine Originating Tumor in Cancers of Unknown Primary (CUP); May Enable Much-Improved Treatment

In patients with cancer, initial diagnosis most often includes the detection of the primary or original tumor and the presence or absence of metastases, i.e., cells from the original tumor that have escaped from their original location and are growing into other tissues of the patient. However, in between 5% and 10% of human tumors this process is done otherwise: metastasis is diagnosed, but the primary tumor is not detected despite various diagnostic testing. This situation is called Cancer of Unknown Primary (CUP). As the type of tumor is not known, the survival of these patients cannot be predicted and is often is very limited. Recently, work led by Dr. Manel Esteller, Director of the Epigenetics and Cancer Biology Program (PEBC) of of Bellvitge Biomedical Research Institute (IDIBELL), ICREA researcher and Professor of Genetics at the University of Barcelona in Spain, shows that it is possible to use a newly-developed epigenetic test - called EPICUP®- to deternine what type of primary tumor is responsible for the metastasis in the patient, which will allow doctors to develop more specific treatments against it. This work was published online on August 26, 2016 in The Lancet Oncology and is titled “Epigenetic Profiling to Classify Cancer of Unknown Primary: A Multicentre, Retrospective Analysis.” A commentary: “Cancer of Unknown Primary: Time to Put the Pieces of the Puzzle Together?” accompanies the research article."A few years ago, we became aware that the chemical patterns that regulate the activity of genes (the epigenome) are specific to each tissue. For example, they are different in a pancreatic cell compared to a lung cell" says Dr. Esteller. "We have analyzed these particular epigenetic signatures for each type of cancer in more than 10,000 human tumors.
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