Abstract
We previously found that gender influenced the JAK2 V617F allele burden, but it is unknown whether this gender difference in molecular epidemiology influences complications in the myeloproliferative neoplasms (MPNs). Historically, vascular complications represented the most common cause of mortality in polycythemia vera and essential thrombocytosis and contributed to morbidity in primary myelofibrosis. To determine the influence of gender on vascular complications, we retrospectively analyzed associations between gender and vascular complications. Despite their younger age, less prevalent dyslipidemia or smoking history, lower white blood counts, and lower JAK2 V617F allele burden, women had higher rates of abdominal venous thrombosis and comparable rates of all vascular complications. Vascular risk is currently not easily stratified by MPN-disease burden or traditional risk factors. Our analysis contributes to growing literature emphasizing gender differences in the MPN and further supports the important impact of individual and host variation on MPN clinical manifestations, and especially vascular risk.
Highlights
The myeloproliferative neoplasms (MPNs), essential thrombocytosis (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) share the same acquired genetic lesion, JAK2 V617F, which may explain shared tendencies towards cardinal complications, which include thrombosis, extramedullary hematopoiesis evolution between phenotypes, and leukemic transformation
We had previously observed gender differences in disease distribution, including an overrepresentation of women among those with ET and PV, and an underrepresentation of women among those with PMF [1]; we found that similar to historical data [2], PV was manifest at a younger age in women compared to men in our cohort
The 270-patient cohort included 164 women and 106 men; women were more likely to distribute in the ET (43/164: 26%) and PV phenotypes (104/164: 63%) than MF (17/164: 10%) compared to men who were more likely to distribute in the PV (57/106: 54%) and MF phenotypes (31/106: 29%) than ET (18/106: 17%) (P = 0.001)
Summary
The myeloproliferative neoplasms (MPNs), essential thrombocytosis (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) share the same acquired genetic lesion, JAK2 V617F, which may explain shared tendencies towards cardinal complications, which include thrombosis, extramedullary hematopoiesis evolution between phenotypes, and leukemic transformation. Clinical and pathologic differences among the three disorders raise the question as to how a shared genetic lesion could result in three distinct phenotypes. This question led us to explore the role of the unique host as a modifier of disease pathogenesis. We identified gender as a potential host modifier of disease pathogenesis and evaluated whether there were differences in the JAK2 V617F allele burden between men and women. We found that gender influenced the JAK2 V617F allele burden within the disease phenotypes and the magnitude of change in the JAK2 V617F allele burden through the course of the disease duration, with women having lower mutational burdens than men [3]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
