New test may identify primary tumor

Epigenetic tests, such as the Epicup
may be used to identify primary
tumors.

CANCER DIGEST -- Aug. 26, 2016 -- In an article published in The Lancet Oncology, researchers at the Bellvitge Biomedical Research Institute (IDIBELL), ​​show that a newly-developed test, called an epigenetic test, can determine the tissue type of the primary tumor, which would allow doctors to develop more specific treatments for it.

In patients with cancer, initial diagnosis most often includes the detection of the primary or original tumor and the presence or absence of metastasis, or the spread of cancer cells from the original tumor that are growing in other tissues.
However, in between 5 percent and 10 percent of human tumors this process is done in reverse: 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 it is very limited.

"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. 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."

Dr. Esteller says identification of the type of cancer by epigenetic test could have a significant impact on the choice of treatment and initial data suggests that survival might be doubled in these patients diagnosed with unknown primary tumors, however, further research is needed to bring the epigenetic test to clinical use.

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