Oncology Central

Novel epigenetic tool could identify origin of cancers of unknown primary

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Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) and Institució Catalana de Recerca i Estudis Avançats (both Barcelona, Spain) have recently collaborated to demonstrate the application of their new epigenetic test, EPICUP®, in identifying primary tumors from a patient’s metastases tumors.

Their investigations, the findings of which have recently been published in The Lancet Oncology, have shown how the EPICUP test can provide a more accurate diagnosis of the tumor type and overall allow more specific treatment options for patients with cancer of unknown primary (CUP).

CUP refers to a medical situation where metastasis is identified but the primary tumor cannot be diagnosed.  It occurs in approximately 5–10% of cancer patients and leads to an extremely limited prognosis.

In this study, researchers developed a tumor classification tool using the microarray DNA methylation signatures (EPICUP) from 2790 tumor samples of known primary origin (38 tumor types, 85 metastases).

The tool was then validated using a separate set of 7691 known tumor samples from the same tumor types (including 534 metastases).The team then used the tool to diagnose the primary tumors of 216 well-characterized patient cases of CUP. Results from these tests identified the primary origin of the metastases in 188 out of the 216 patients (87%).

“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,” noted investigator Manel Esteller (IDIBELL).

Patients diagnosed using the EPICUP test, who went on to received tumor-specific treatment, demonstrated better survival than patients who received empiric therapy. There are hopes that diagnosis of CUP using the EPICUP test will lead to better clinical management of patients.

Esteller went on to comment: “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.”

Sources: Moran S, Martínez-Cardús A, Sayols S et al. Epigenetic profiling to classify cancer of unknown primary: a multicentre, retrospective analysis. The Lancet Oncology, doi: 10.1016/S1470-2045(16)30297-2 (2016) [Epub ahead of print]; IDIBELL press release

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