Contributions
Abstract: PB2311
Type: Publication Only
Background
Patients with chronic myeloproliferative neoplasms (MPNs) have thrombotic complications. Many reports showed that JAK2 mutation is involved in thrombosis pathogenesis. Genetic thrombophilia characterized by presence of more than 1 mutation PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and prothrombin 20210A could be an important risk factor.
Aims
The aim of our study was to evaluate the frequencies of these mutation in MPNs patients and association with thrombosis risk
Methods
This retrospective study included 75 patients with MPNs (36 female and 39 male), median age 65.1 (female-61.7, male 67.1). Mutational analyses identified in 52 patients presence of JAK2 mutation,14 patients have CALR mutation presence and 9 patients have no mutation. Thrombophilia testing was performed including mutations: PAI-1, MTHFR 677TT, V Leiden and prothrombin 20210A. The group of patients was splitted in group with thrombotic complications (heart infarct, pulmonary embolia, stroke, splanhnic thrombosis) represented by 21 patients and without thrombosis – 54 patients
Results
Thrombosis was present in MPNs patients JAK2 positive. Patients with CALR mutation had not thrombosis in their medical history, although they have higher count of platelet compared with MPNs patient with JAK2 mutation present (CALR group PLT 1036 x 109/L vs JAK2 group 847 x 109/L). Patients with thrombotic complication have not more frequent association with genetic mutations MTHFR, prothrombin or V Leiden mutations, 17/21 patients compared with 21/54 patients.
Conclusion
JAK2V617F mutation is an important risk factor for the pathogenesis of thrombosis in MPN. Association with another genetic mutations like V Leiden factor, PAI1 or prothrombin 20210A mutation could increased the risk of thrombosis but in our study we did not obtained this. We have to check these findings in a higher lot of patients
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Myeloproliferative disorder, Platelet, Thrombophilia, Thrombosis
Abstract: PB2311
Type: Publication Only
Background
Patients with chronic myeloproliferative neoplasms (MPNs) have thrombotic complications. Many reports showed that JAK2 mutation is involved in thrombosis pathogenesis. Genetic thrombophilia characterized by presence of more than 1 mutation PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and prothrombin 20210A could be an important risk factor.
Aims
The aim of our study was to evaluate the frequencies of these mutation in MPNs patients and association with thrombosis risk
Methods
This retrospective study included 75 patients with MPNs (36 female and 39 male), median age 65.1 (female-61.7, male 67.1). Mutational analyses identified in 52 patients presence of JAK2 mutation,14 patients have CALR mutation presence and 9 patients have no mutation. Thrombophilia testing was performed including mutations: PAI-1, MTHFR 677TT, V Leiden and prothrombin 20210A. The group of patients was splitted in group with thrombotic complications (heart infarct, pulmonary embolia, stroke, splanhnic thrombosis) represented by 21 patients and without thrombosis – 54 patients
Results
Thrombosis was present in MPNs patients JAK2 positive. Patients with CALR mutation had not thrombosis in their medical history, although they have higher count of platelet compared with MPNs patient with JAK2 mutation present (CALR group PLT 1036 x 109/L vs JAK2 group 847 x 109/L). Patients with thrombotic complication have not more frequent association with genetic mutations MTHFR, prothrombin or V Leiden mutations, 17/21 patients compared with 21/54 patients.
Conclusion
JAK2V617F mutation is an important risk factor for the pathogenesis of thrombosis in MPN. Association with another genetic mutations like V Leiden factor, PAI1 or prothrombin 20210A mutation could increased the risk of thrombosis but in our study we did not obtained this. We have to check these findings in a higher lot of patients
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Myeloproliferative disorder, Platelet, Thrombophilia, Thrombosis