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Comprehensive Genomic Profiling with FoundationOne® Classifies Carcinomas

–Findings Help Guide Toward Targeted Therapeutic Options, Potentially Improved Outcomes, and Care Efficiencies for Patients and Payers–

Foundation Medicine presented data today at the 2016 American Society of Clinical Oncology (ASCO) Annual Meeting showing that comprehensive genomic profiling (CGP) with FoundationOne® has significant potential to identify a “tissue of origin” for certain carcinomas when the somatic location of where the cancer originated cannot be determined.

Cancer of unknown primary origin, also known as CUP, is the clinical term for cancer that has spread throughout the body, but for which its site origination is unknown or can’t be determined. CUP accounts for more than 30,000 cancer diagnoses annually in the United States. Importantly, it is a cancer diagnosis with critically high unmet need as there are no FDA-approved therapies for CUP, and patients often face very poor prognosis.

We have previously shown that use of CGP identifies a clinically relevant genomic alteration in whopping 96 percent of patients with CUP. In the study presented today at ASCO, DNA alterations from 44,065 samples that underwent CGP as part of standard clinical care were classified using logistic regression based on mutational profiles and select clinical features. Importantly, the data show that:

  • In a large series of CUP patients with alterations in the lung gene set, one-third were likely NSCLC, and could potentially benefit from approved targeted therapies in this disease.
  • When applied to BRAF V600-mutant CUPs, 37% were predicted to be colorectal cancers, and therefore single agent vemurafenib therapy is unlikely to be effective and combination therapy indicated.
  • Application of this classifier to CUPs may help identify therapeutic strategies from CGP without the need for additional material or testing.

These findings, detailed in the Annual Meeting poster titled “DNA-based genomic profiling for classification of tissue of origin for patients with carcinoma of unknown primary site” validate the use of comprehensive genomic profiling for identifying therapeutic strategies in these cancers. These findings further support the efficiency in diagnosis and speed to therapeutic intervention that can be delivered by utilizing FoundationOne, potentially eliminating numerous costly and time-consuming diagnostic analyses to identify the site of origination of the tumor. Most importantly, this singular CGP approach is useful for informing targeted therapy options that are likely to be effective, bringing new hope to people living with CUP.