National precision medicine-based initiative to define genomic drivers of triple negative myeloproliferative neoplasms

Accelerating precision medicine for patients with myeloproliferative neoplasms

A pan-Canadian team of clinicians and researchers led by Dr. Natasha Szuber, a hematologist-oncologist at the Hôpital Maisonneuve-Rosemont (HMR) and clinical researcher at the HMR's research centre, will seek to accelerate precision medicine for patients with a rare type of blood cancer thanks to funds awarded through the MOHCCN Pan-Canadian Project program. 

The team, which includes clinicians and researchers from Montreal, Calgary, Vancouver, Toronto and Hamilton, will use these funds to study the genomic and clinical landscape of patients with triple-negative myeloproliferative neoplasms (TN MPN), a rare form of chronic blood cancer. Their goal is to better understand the genetic landscape of these diseases in order to ultimately improve survival and quality of life for patients. 

“Today, precision medicine approaches are being used to diagnose myeloproliferative neoplasms (MPN) and determine which patients are at a higher risk of having poor outcomes,” explains Dr. Szuber. “But these approaches don’t systematically address the 10-15% of these patients who have TN MPN, a rare and diverse subgroup lacking classical genetic markers of MPN. There are critical challenges involved in confirming diagnosis and determining risk level and optimal therapy in these patients, putting them at a higher risk of detrimental outcomes. This is what we want to address.” 

To change this, the team will use funding from the MOHCCN to collect clinical and genomic data from TN MPN patients treated in centres across the country. This will help establish the first national biobank of TN MPN cases, complete with genomic and clinical data, which will provide researchers with enough information to study the clinical and genetic background of TN MPN patients, which is currently not well understood.  

This information will help the team establish a permanent structure for precision medicine and personalized therapy for all patients with TN MPN treated in Canada and around the world. 

“The immediate impact of this project is to improve accuracy of diagnosis and guide treatment decisions, eliminating unnecessary and potentially harmful testing and treatment in those not requiring it,” says Dr. Szuber, who is also the recipient of an MOHCCN Clinician-Scientist award. “But more importantly, we will also use this resource to search for genetic markers that could potentially act as new drug targets, establishing the foundation for personalized therapy in TN MPN.” 

All genomic and clinical data collected through this study will also be contributed to the MOHCCN Gold Cohort, which seeks to be the largest and most complete cancer case resource in Canada. 

In short: 

• Myeloproliferative neoplasms (MPN) are a group of chronic blood cancers associated with decreased quality of life and shorter overall survival. There is no cure for MPN, except for stem cell transplant, for which only a minority of patients are eligible.  

• Diagnosis of MPN relies on identification of genetic “signatures” called driver mutations.  These signatures also help to predict outcomes. Critically, 10-15 per cent of certain subtypes of MPN patients do not carry any of the classical genetic signatures and are referred to as “triple-negative myeloproliferative neoplasms” (TN MPN).  

• The clinical and genetic background of TN MPN patients is not well understood. This project seeks to bridge this gap by collecting genomic and clinical data from patients treated across the country to create the first national TN MPN biobank. This will provide researchers with enough genomic and clinical data to study this disease to accelerate precision medicine for these patients and improve their diagnosis and treatment.