Defining the genomic landscape of high-risk hyperproliferative phenotypes in polycythemia vera: A precision medicine-based approach

Clinician-scientist awardee seeks to identify patients with rare blood cancers who are at high risk of complications

An early-career clinician-scientist in Montreal is hoping to accelerate precision medicine for patients diagnosed with a rare form of blood cancer thanks to funding from the Marathon of Hope Cancer Centres Network (MOHCCN).

Dr. Natasha Szuber, a hematologist-oncologist at the Hôpital Maisonneuve-Rosemont (HMR) and clinical researcher at the HMR's research centre, will use her new MOHCCN Clinician-Scientist Award to find better ways to identify which patients with polycythemia vera (PV) are at a higher risk of developing more aggressive cancers or other life-threatening – but preventable – complications such as clots, including strokes and heart attacks.

“For most patients, PV is a chronic disease which they can live with for the rest of their lives with no major complications,” says Dr. Szuber, who sees patients with these cancers as part of her practice. “But for a number of other patients, things can go sideways fairly quickly, and we don’t yet know who that is going to happen to and why.”

Not knowing who is at risk of developing complications from the disease and who isn’t, is a “critical care gap” that needs to be overcome to improve outcomes and quality of life for patients diagnosed with this disease, says Dr. Szuber.

With $450,000 in funding, coming in equal amounts from MOHCCN and HMR, she will be able to study PV from multiple angles, including performing genomic and transcriptomic analysis, to try to understand the “unique fingerprint” of high-risk patients and to build a risk stratification system that will help personalize treatment plans for patients diagnosed with this disease. 

“Being able to more specifically and accurately identify high-risk patients will mean that we can potentially treat them earlier and more aggressively and possibly prevent major cardiovascular events that cause death in some patients, while also avoiding over treating patients who are at a low risk of complications,” explains Dr. Szuber. Information gleaned from the analysis could also potentially reveal new therapeutic targets to address this disease. 

“This support not only has the potential to have a huge impact in the lives of patients by ushering in a new era of precision medicine for PV, but it is also a testament of the Network’s commitment to invest and to bring awareness to rare cancers, which is a unique and important approach to funding cancer research.”

The $225,000 award is for three years and will be matched by the Hôpital Maisonneuve-Rosemont to total $450,000.