Foundation Medicine has announced new data demonstrating that its fully informative genomic profile for hematologic cancers, FoundationOne™ Heme, can be performed in routine clinical cancer specimens to identify all classes of genomic alterations, including gene fusions, across hundreds of genes related to oncogenesis in patients with hematologic malignancies. These data were presented today in an oral presentation titled Identification Of Actionable Genomic Alterations In Hematologic Malignancies By a Clinical Next Generation Sequencing-Based Assay (abstract number 230) by Ross L. Levine, M.D., hematologist/oncologist and associate member, Human Oncology and Pathogenesis Program and Leukemia Service, Memorial Sloan-Kettering Cancer Center, at the American Society of Hematology Annual Meeting in New Orleans.

"These data demonstrate the feasibility of comprehensive genomic profiling in patients with hematologic malignancies, and represent a significant step forward in making this approach available in routine clinical care," said Dr. Levine. "FoundationOne Heme enables the identification of genomic alterations that are molecular drivers of each patient's cancer which may help to expand and inform treatment options for individual patients, advance the development of new therapies against these targets, and ultimately improve patient outcomes."

In this study, Memorial-Sloan Kettering and Foundation Medicine researchers used FoundationOne Heme to analyze routine cancer specimens from 319 patients with a range of hematologic malignancies, including leukemia, lymphoma and myeloma. DNA and RNA were successfully extracted from 96% (350/362) of specimens. Ninety-one percent of samples (317/350) contained sufficient tumor content for analysis, and a total of 885 alterations were identified (3.1 average alterations per sample). The most frequent alterations across all hematologic malignancies included: TP53; ASXL1; KRAS; NRAS; IDH2; TET2; SF3B1; JAK2; MLL2; DNMT3A; RUNX1; SRSF2; FLT3 internal tandem duplication; MLL partial tandem duplication; homozygous loss of CDKN2A/B; and focal amplification of REL. RNA sequencing enabled detection of gene fusions in BCL2/6, MYC, MLL, MLL2, NOTCH2, ABL1 and ETV6 demonstrating the ability of FoundationOne Heme to reliably detect this type of alteration that is a common driver of hematologic malignancies.

Notably, the high accuracy of FoundationOne Heme enabled detection of clinically actionable genomic alterations that were not detected using standard clinical assays, including:

  • IDH1/2 alterations in a spectrum of myeloid/lymphoid malignancies;
  • Recurrent BRAF alterations in refractory CLL (chronic lymphocytic leukemia) and myeloma;
  • Alterations in the JAK-STAT signaling pathway in diffuse-large B cell lymphoma.

"Cancer care is being transformed by the ability to perform comprehensive genomic analysis of an individual's tumor, and then using this molecular information to identify the most relevant targeted therapies or clinical trials for each patient based on their genomic profile," said Vincent Miller, M.D., chief medical officer, Foundation Medicine. "We continue to demonstrate the increasing value of comprehensive genomic profiling in solid tumors, and we are now very pleased to report these initial data showing the utility of this approach in hematologic cancers. We believe FoundationOne Heme will help advance patient care and enable precision medicine for patients with a range of hematologic malignancies."