Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/71938
Title: Thrombotic risk detection in patients with polycythemia vera: The predictive role of DNMT3A/TET2/ASXL1 mutations
Authors: Segura-Díaz, Adrián
Stuckey, Ruth
Florido, Yanira
González-Martín, Jesús María
López-Rodríguez, Juan Francisco
Sánchez-Sosa, Santiago
González-Pérez, Elena
Perdomo, María Nieves Sáez
del Mar Perera, María
de la Iglesia, Silvia
Molero Labarta, María Teresa 
Gómez Casares, María Teresa 
Bilbao Sieyro, Cristina 
UNESCO Clasification: 320703 Carcinogénesis
Keywords: Cardiovascular Disease
Myeloproliferative Neoplasms
Next-Generation Sequencing
Personalized Medicine
Prognosis, et al
Issue Date: 2020
Journal: Cancers (Basel) 
Abstract: The development of thrombotic events is common among patients with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).We studied the influence of pathogenic mutations frequently associated with myeloid malignancies on thrombotic events using next-generation sequencing (NGS) in an initial cohort of 68 patients with myeloproliferative neoplasms (MPN). As expected, the presence of mutations in DNMT3A, TET2, and ASXL1 (DTAgenes) was positively associated with age for the whole cohort (p = 0.025, OR: 1.047, 95% CI: 1.006-1.090). Also, while not related with events in the whole cohort, DTA mutations were strongly associated with the development of vascular events in PV patients (p = 0.028). To confirm the possible association between the presence of DTA mutation and thrombotic events, we performed a case-control study on 55 age-matched patients with PV (including 12 PV patients from the initial cohort, 25 with event vs. 30 no event). In the age-matched case-control PV cohort, the presence of ≥1 DTAmutation significantly increased the risk of a thrombotic event (OR: 6.333, p = 0.0024). Specifically, mutations in TET2 were associated with thrombotic events in the PV case-control cohort (OR: 3.56, 95% CI: 1.15-11.83, p = 0.031). Our results suggest that pathogenic DTA mutations, and particularly TET2 mutations, may be an independent risk factor for thrombosis in patients with PV. However, the predictive value of TET2 and DTA mutations in ET and PMF was inconclusive and should be determined in a larger cohort.
URI: http://hdl.handle.net/10553/71938
ISSN: 2072-6694
DOI: 10.3390/cancers12040934
Source: Cancers [EISSN 2072-6694], v. 12 (4), (Abril 2020)
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