Blog

A study authored by Julia Elvin, M.D., Ph.D., associate medical director & senior pathologist at Foundation Medicine, utilized FoundationOne®, a comprehensive genomic profile, to identify a high frequency of clinically relevant genomic alterations in recurrent, treatment refractory endometrioid endometrial adenocarcinomas (EEAC). The study confirms previous observations that a specific genomic alteration predicts a genomically distinct subgroup within EEAC. These findings could provide important guidance on how to effectively treat the disease. Dr. Elvin presented a poster about the study during the Meet the Professors session at the Society of Gynecologic Oncology’s (SGO) Annual Meeting on Women’s Cancer on March 28 in Chicago.

Dr. Elvin’s study, which extracted DNA from 326 late-stage endometrial adenocarcinomas samples, showed that the presence of a genomic alteration in the gene CTNNB1 can predict a molecularly distinct subgroup of EEAC that has been linked to the clinically aggressive behavior of some forms of endometrial cancer. The rate of the CTNNB1 alteration, which is the gene that encodes the protein β-catenin, across all endometrial subtypes tested was 17%.

In addition, of the 98 endometrioid endometrial adenocarcinoma cases that were selected for further analysis, 96% featured at least one clinically relevant genomic alteration. Of the cases with at least one clinically relevant genomic alteration, 91% had alterations in the AKT1/PIK3/mTOR pathway, with similarly high rates seen whether or not β-catenin (CTNNB1) was mutated. However, there was a significant difference in the presence of MEK pathway alterations and tumor suppressor loss associated with β-catenin (CTNNB1) mutation status. Alterations in any of these clinical relevant genomic pathways may indicate a potential patient response to targeted therapies that are currently available on the market or being studied in clinical trials and suggest that differing approaches to targeted therapy may be required between these two molecularly defined subgroups.

Foundation Medicine’s clinical test FoundationOne for solid tumors provides a comprehensive genomic profile to identify the molecular alterations in a patient’s cancer and match them with relevant targeted therapies and clinical trials. The data presented at SGO provide further evidence of the utility of Foundation Medicine’s comprehensive genomic profiles to help inform the treatment of patients and aid in the development of targeted therapies, particularly for aggressive cancers such as EEAC.