September 7, 2017

Liquid Biopsies Find Distinct Genomic Profiles in Most Patients with Carcinoma of Unknown Primary


New research suggests that a simple blood test to evaluate circulating tumor DNA (ctDNA) can correctly identify distinct genomic profiles with potentially treatable targetable alterations in patients with carcinoma of unknown primary (CUP).1

Identifying the origin of cancers historically referred to as a cancer of unknown primary it has been problematic to determine how to best treat patients. Cancers of unknown primary are those that manifest as widespread disease without an identifiable tissue of origin. The incidence of CUP is 7 to12 cases per 100,000 per year. Current treatment utilizes standard platinum-based combination chemotherapy and the response to treatment is modest with an overall survival of only six to eight months.

Liquid Biopsy

Using liquid biopsies collected from 442 patients with CUP, the researchers evaluated 54 to 70 genes in ctDNA using next-generation DNA sequencing. They researchers found that a total of 66 percent of patients had at least one characterized genetic mutation and 43.9 percent had two or more. The most mutations were found in the genes TP53, KRAS, PIK3CA, BRAF and MYC. Among CUP patients found to have at least one characterized alteration, 99.7 percent of patients had a treatable genetic mutation with a currently available precision cancer medicine.

These clinical study results clearly demonstrate that a liquid biopsy with ctDNA evaluation is feasible and that most patients with CUP will have a unique genetic profile that can be treated with currently available precision cancer medicines.



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Tags: Carcinoma of Unknown Primary, circulating tumor DNA, General, Genomic Profile, Liquid Biopsy, News, Precision Cancer Medicine, Uncategorized