First Epigenetic Signature Test to Classify Metastasis Tumors of Unknown Origin

A multicentre, retrospective study has shown that an innovative new test could be used for epigenetic profiling to classify cancer of unknown primary (CUP) origin, which would enable doctors to develop more specific treatments.

Initial cancer diagnosis most often includes detection of the primary tumor and the presence or absence of metastases. However, in 5-10% of human tumors this process is done otherwise, as CUPs: metastasis is diagnosed, but the primary tumor is not detected despite various diagnostic testing.


The study, led by Prof. Dr. Manel Esteller, of Bellvitge Biomedical Research Institute (IDIBELL; Barcelona, Spain) and University of Barcelona (Barcelona, Spain), showed that it is possible to use the EPICUP test to determine the type of primary tumor responsible for the metastasis in the patient. EPICUP has helped identify up to 87% of cases of CUPs.

"A few years ago, we became aware that chemical patterns that regulate activity of genes (the epigenome) are specific to each tissue. For example, they are different in a pancreatic cell compared to a lung cell," said Dr. Manel Esteller, "We have analyzed these particular epigenetic signatures for each type of cancer in more than 10,000 human tumors. When we now study the DNA of the metastasis of a patient with a tumor of unknown origin, the photograph of the epigenome that we get will tell us that it belongs to the family of pancreatic cancer, lung, colon, breast, etc. In other words, we will give a diagnosis of the origin of the tumor.

"From now on, the patient will not be treated blindly, since we will be able to provide a much more specific therapy for this tumor type; actually, initial data shows that survival is doubled", explained Dr. Esteller, "Something very important to keep in mind is that this is not a discovery to be developed in the coming years; our collaboration with Ferrer laboratories made it possible for this test to be applied from this very moment."

The study, by Moran S et al, was published August 27, 2016, in the journal Lancet Oncology.

Related Links:
Bellvitge Biomedical Research Institute
University of Barcelona