Myeloproliferative neoplasms: a precision medicine-based approach


  1. Prospectively/retrospectively collect and analyze samples from appropriately consented patient populations with primary or secondary (post-polycythemia vera/essential thrombocytosis) myelofibrosis (MF).
  2. Evaluate the interplay between age/gender and genomic constitution in these cohorts.
  3. Correlate genomic data with disease complication rates and survival outcomes.
  4. Identify novel putative therapeutic targets.
  5. Expand and enhance opportunities for patients and for research activities in rare blood cancers.
  6. Improve access to genomic precision medicine for patients across Quebec, including rural areas.


Myeloproliferative neoplasms (MPN) are stem-cell derived hematological malignancies characterized by uncontrolled cellular proliferation. They are rapidly becoming a high-priority field of research due to their increasing prevalence, potentially devastating clinical consequences and high symptom burden, as well as lack of disease-modifying therapeutics, and the growing focus on principles of precision medicine as their complex genetic landscape is progressively elucidated. Clinically, MPN patients, particularly those with MF, suffer substantial and multi-dimensional disease burden (physical, emotional), with no available disease modifying therapy or effective cure. The economic burden of MPN is also high, with the lifetime medical cost of treating a single MF patient estimated at $266,000, including $228,356 of resource costs.

Furthermore, MPN are age-dependent, and affect an ever-increasing proportion of the population with incidence rates expected to rise, making them an increasingly prevalent Canadian and global healthcare problem. Importantly, while the genomic framework of MPN has been progressively delineated, there remain subgroups for whom comprehensive genetic characterization has lagged and who stand to benefit significantly from this. The MOH cohort we are prioritizing within the backdrop of MF includes, specifically, younger patients with MF (< 60 yrs old at diagnosis), those who lack canonical driver mutations (JAK2V617F, CALR, MPL), and those with extreme myeloproliferation. Whole genome and transcriptome analysis of these groups is expected to significantly deepen our understanding of disease biology, identify novel drivers of disease, and reveal putative therapeutic targets. The overarching objective is to cross-reference genomics data with comprehensive clinical data that is immediately available from the Groupe Québécois de Recherche en leucémie myéloide chronique et néoplasies myéloprolifératives (GQR LMC-NMP) patient registry (over 1200 patients) to better predict clinical outcomes, inform patient management, and open the door to precision-based therapies.