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Title: DNMT3A/TET2/ASXL1/ Mutations are an Age-independent Thrombotic Risk Factor in Polycythemia Vera Patients: An Observational Study
Authors: Segura Díaz, Adrian 
Stuckey, Ruth
Florido, Yanira
Sobas, Marta
Alvarez-Larran, Alberto
Ferrer-Marin, Francisca
Perez-Encinas, Manuel
Carreno-Tarragona, Gonzalo
Fox, Maria L.
Tazon Vega, Barbara
Cuevas, Beatriz
Lopez Rodriguez, Juan F.
Sanchez Farias, Nuria
Gonzalez-Martin, Jesus M.
Gómez Casares, María Teresa 
Bilbao Sieyro, Cristina 
UNESCO Clasification: 32 Ciencias médicas
320708 Hematología
320102 Genética clínica
Keywords: Clonal Hematopoiesis
Myeloproliferative Neoplasm
Cardiovascular Event
Next-Generation Sequencing, et al
Issue Date: 2024
Journal: Thrombosis and Haemostasis 
Abstract: Background Polycythemia vera (PV) patients are classified as high or low thrombotic risk based on age and prior history of thrombosis. Despite adherence to treatment recommendations, vascular events remain frequent, leading us to question whether thrombotic risk stratification could be improved. We previously reported an association between thrombotic events and mutations in DTA genes (DNMT3A, TET2, and ASXL1). The objective of this study was to confirm this observation in a larger series of PV patients. Methods PV patients with a minimum follow-up of 3 years were recruited from 8 European centers. Medical history was searched for thrombotic event recorded at any time and next-generation sequencing carried out with a myeloid panel. Multivariable logistic regression evaluated the impact of variables on thrombotic risk. Kaplan-Meier thrombosis-free survival curves were compared by the log rank test. Associations in the total cohort were confirmed in a case-control study to exclude selection bias. Results Of the 136 patients recruited, 74 (56.1%) had a thrombotic event, with an incidence density of 2.83/100 person-years. In multivariable analysis, DTA mutation was a risk factor for thrombotic event, being predictive for shorter thrombosis-free survival in the whole cohort (p = 0.007), as well as in low-risk patients (p = 0.039) and older patients (p = 0.009), but not for patients with a prediagnostic event. A gender- and age-matched case-control study confirmed the increased risk of thrombotic event for PV patients with a DTA mutation. Conclusion Our results support the use of molecular testing at diagnosis to help predict which PV patients are at higher risk of developing thrombosis.
ISSN: 0340-6245
DOI: 10.1055/a-2239-9265
Source: Thrombosis And Haemostasis [ISSN 0340-6245], (2024)
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