POLE NGS testing for endometrial cancers will soon be available for patients in the UK under the guidance of Dr. Naveena Singh and research from the Vancouver team. 

POLE mutations refer to mutations in the exonuclease domain in the enzyme DNA polymerase epsilon, which can give rise to tumors with a greater mutation frequency. POLE-mutant types of endometrial cancer have low rates of recurrence and mortality and often occur in young women with no metabolic associations. 

The ability to distinguish low-risk POLE-mutant endometrial cancers from higher-risk non-POLE-mutant cancers has been made possible by POLE Next-Generation Sequencing (NGS). The use of POLE NGS testing will contribute greatly to the molecular classification and risk assessment of endometrial carcinomas.

In 2021, based on research in collaboration with Dr. Aline Talhouk and others from UBC, Dr. Naveena Singh led a successful application to make POLE testing available for women with endometrial cancer in the UK. As of 2022, the UK is rolling out POLE NGS testing using BAGP BGCS guidelines created by Dr. Naveena Singh and Dr. Amy Jamieson, together with others from the UK. Dr. Naveena Singh is an anatomic pathologist at Vancouver Coastal Health’s Vancouver General Hospital and clinical professor at the University of British Columbia (UBC) who has been investigating ways to improve gynecologic cancer diagnostic reporting. Her research is now being used in the development of international policies to promote the earlier detection and proper treatment of endometrial cancers. Before moving to Vancouver in the fall of 2021, she worked in the UK for 25 years and remains engaged with research and policy development in the UK.

Prior to the genomic subclassification of endometrial cancers, prognosis and subclassification were dependent on morphologic features of the tumor. This posed a significant limitation in the evaluation of a patient’s risk prediction. 

However, a new wave of research looking into genomic biomarkers of cancer has permitted greater accuracy in the classification and risk assessment of endometrial cancers. Working out of UBC, the team in Vancouver, including Dr. Jessica McAlpine, Dr. Aline Talhouk, Dr. Amy Jamieson, Dr. Blake Gilks, Dr. Naveena Singh, and many others, has been conducting research on the biology, testing, and interpretation of POLE mutations in endometrial cancer patients. Their knowledge and expertise have contributed to the production of thorough guidelines for POLE testing by the UK’s national genomic services to ensure the economical use of this shared resource. Although it is too early to gauge the impact of this policy, Drs. Singh and Jamieson have received positive feedback from practitioners in the UK and elsewhere.

Although based in Vancouver, research by the team led by Dr. Jessica McAlpine has helped guide POLE Next-Generation Sequencing (NGS) testing for endometrial cancers overseas. This is just one instance of the amazing work the GCI’s team has been conducting in their commitment to enhancing care for patients both in B.C. and worldwide.

For more information about endometrial cancer and molecular classification, check out this article with contributions from Dr. Singh and Dr. McAlpine.