AACR Highlights

Analysis of next-generation sequencing has given physicians a depth of information regarding molecular aberrations beyond the capacity of traditional DNA sequencing technologies, but it has not led to breakthroughs in treatment and is not providing treatment recommendations for many patients. There is a need for better predictive assays to match the right drug with the right patient. At the 2020 American Association for Cancer Research annual meeting, Astrid Margossian, MD, PhD, Chief Medical Officer, SEngine Precision Medicine, Seattle, WA, presented results of a new assay designed to address this.

Conventional antitumor therapies include chemotherapy, radiation, and surgery. After the identification of molecular aberrations as drivers for carcinogenesis, the introduction of therapies that target specific tumor-promoting pathways has revolutionized the development of cancer therapeutics.

Mutations in the isocitrate dehydrogenase (IDH)1 and IDH2 enzymes are among the most common genetic alterations in intrahepatic cholangiocarcinoma (CCA) and are present in approximately 20% of patients. IDH proteins are enzymes involved in diverse cellular processes, including histone demethylation and DNA modification. The IDH2 protein is localized in the mitochondria and is a critical component of the tricarboxylic acid (also called citric acid or Krebs) cycle.

The number of treatable tumor-specific molecular aberrations has grown substantially in the past decade, with a survival benefit obtained from matching biomarkers to therapies in several cancer types, such as breast, colon, and lung. Molecular diagnostic techniques have become fundamental in providing information about tumor diagnosis and prognosis as well as in driving therapeutic decisions in oncology practice.