PREVALENCE OF THE JAK2 V617F MUTATION IN SOME COHORTS OF THE CENTRAL SIBERIA (KRASNOYARSK REGION) POPULATION
(Abstract release date: 05/19/16)
EHA Library. Olkhovskiy I. 06/09/16; 134930; PB2030
Ms. Igor Olkhovskiy
Contributions
Contributions
Abstract
Abstract: PB2030
Type: Publication Only
Background
Somatic mutation of the JAK2 V617F is associated with the pathogenesis of myeloproliferative neoplasms (MPNs) and it is an important diagnostic marker. However, V617F JAK2 was detected also at 0.2-1% of the adult population, without the MPN when using highly sensitive allelic load test (Xu X, et.al., 2007; Nielsen C., et.al., 2014). The V617F JAK2 mutation significantly increases the risk of both arterial and venous thrombosis, including cerebral vessels, visceral intestinal veins and especially Budd-Chiari syndrome (Smalberg JH, et.al., 2012). These causes of hospitalization may be the first manifestations of MPN.
Aims
Evaluate the frequency of the JAK2 V617F mutation in different cohorts of hospital patients and blood donors.
Methods
Allele-specific RT PCR was performed to detect of the JAK2 V617F allele load in whole blood samples among the following groups: healthy blood donors, patients who were included in the program of routine inspections, patients who were are hospitalized in general hospitals, as well as those who were directed by hematologist with suspected to MPN.
Results
The frequency of the JAK2 V617F mutation was maximal when the patients were directed by a hematologist with MPN suspected (Table 1). Minimum prevalence was observed in healthy blood donors. Among patients from non-hematological hospital departments 12% cases (3 of 24 patients) with JAK2-V617F had ischemic stroke. Participation in voluntarily medical examination reveals patients with mutation but who have no any hematological abnormalities in 95% cases were directed by hematologist with suspected to MPN.Table 1. JAK2 V617F mutation frequency among cohorts
Conclusion
High risk of thrombosis and of the MPN development, as well as the potential risk of transmission of the transformed cell clone to recipients of the bone marrow and blood, raises the issue of screening for JAK2 V617F among some cohorts of patients. An analysis of 'benefit - harm', taking into account the effectiveness of preventive measures will be the subject of additional studies.
Session topic: E-poster
Keyword(s): Ischemic stroke, Myeloproliferative disorder, Prophylaxis
Type: Publication Only
Background
Somatic mutation of the JAK2 V617F is associated with the pathogenesis of myeloproliferative neoplasms (MPNs) and it is an important diagnostic marker. However, V617F JAK2 was detected also at 0.2-1% of the adult population, without the MPN when using highly sensitive allelic load test (Xu X, et.al., 2007; Nielsen C., et.al., 2014). The V617F JAK2 mutation significantly increases the risk of both arterial and venous thrombosis, including cerebral vessels, visceral intestinal veins and especially Budd-Chiari syndrome (Smalberg JH, et.al., 2012). These causes of hospitalization may be the first manifestations of MPN.
Aims
Evaluate the frequency of the JAK2 V617F mutation in different cohorts of hospital patients and blood donors.
Methods
Allele-specific RT PCR was performed to detect of the JAK2 V617F allele load in whole blood samples among the following groups: healthy blood donors, patients who were included in the program of routine inspections, patients who were are hospitalized in general hospitals, as well as those who were directed by hematologist with suspected to MPN.
Results
The frequency of the JAK2 V617F mutation was maximal when the patients were directed by a hematologist with MPN suspected (Table 1). Minimum prevalence was observed in healthy blood donors. Among patients from non-hematological hospital departments 12% cases (3 of 24 patients) with JAK2-V617F had ischemic stroke. Participation in voluntarily medical examination reveals patients with mutation but who have no any hematological abnormalities in 95% cases were directed by hematologist with suspected to MPN.Table 1. JAK2 V617F mutation frequency among cohorts
| Cohort | Total surveyed | JAK2-V617F positive patients,n (%) | JAK2-V617Fallele load, (%) (Me (Min-Max)) | Age(Me (Min-Max)) |
| Blood donors | 1149 | 8 (0.7) | 0.47 (0.07-2.58) | 39 (18-67) |
| In baseline medical examination | 1515 | 17 (1.12) | 0.26 (0.05-0.18) | 53 (45-80) |
| From not hematological hospital departments | 1290 | 24 (1.86) | 0.84 (0.04-48.8) | 57 (16-90) |
| Directed by hematologist | 903 | 301 (33.3) | 32.0 (0.06-97.0) | 54.0 (16-100) |
Conclusion
High risk of thrombosis and of the MPN development, as well as the potential risk of transmission of the transformed cell clone to recipients of the bone marrow and blood, raises the issue of screening for JAK2 V617F among some cohorts of patients. An analysis of 'benefit - harm', taking into account the effectiveness of preventive measures will be the subject of additional studies.
Session topic: E-poster
Keyword(s): Ischemic stroke, Myeloproliferative disorder, Prophylaxis
Abstract: PB2030
Type: Publication Only
Background
Somatic mutation of the JAK2 V617F is associated with the pathogenesis of myeloproliferative neoplasms (MPNs) and it is an important diagnostic marker. However, V617F JAK2 was detected also at 0.2-1% of the adult population, without the MPN when using highly sensitive allelic load test (Xu X, et.al., 2007; Nielsen C., et.al., 2014). The V617F JAK2 mutation significantly increases the risk of both arterial and venous thrombosis, including cerebral vessels, visceral intestinal veins and especially Budd-Chiari syndrome (Smalberg JH, et.al., 2012). These causes of hospitalization may be the first manifestations of MPN.
Aims
Evaluate the frequency of the JAK2 V617F mutation in different cohorts of hospital patients and blood donors.
Methods
Allele-specific RT PCR was performed to detect of the JAK2 V617F allele load in whole blood samples among the following groups: healthy blood donors, patients who were included in the program of routine inspections, patients who were are hospitalized in general hospitals, as well as those who were directed by hematologist with suspected to MPN.
Results
The frequency of the JAK2 V617F mutation was maximal when the patients were directed by a hematologist with MPN suspected (Table 1). Minimum prevalence was observed in healthy blood donors. Among patients from non-hematological hospital departments 12% cases (3 of 24 patients) with JAK2-V617F had ischemic stroke. Participation in voluntarily medical examination reveals patients with mutation but who have no any hematological abnormalities in 95% cases were directed by hematologist with suspected to MPN.Table 1. JAK2 V617F mutation frequency among cohorts
Conclusion
High risk of thrombosis and of the MPN development, as well as the potential risk of transmission of the transformed cell clone to recipients of the bone marrow and blood, raises the issue of screening for JAK2 V617F among some cohorts of patients. An analysis of 'benefit - harm', taking into account the effectiveness of preventive measures will be the subject of additional studies.
Session topic: E-poster
Keyword(s): Ischemic stroke, Myeloproliferative disorder, Prophylaxis
Type: Publication Only
Background
Somatic mutation of the JAK2 V617F is associated with the pathogenesis of myeloproliferative neoplasms (MPNs) and it is an important diagnostic marker. However, V617F JAK2 was detected also at 0.2-1% of the adult population, without the MPN when using highly sensitive allelic load test (Xu X, et.al., 2007; Nielsen C., et.al., 2014). The V617F JAK2 mutation significantly increases the risk of both arterial and venous thrombosis, including cerebral vessels, visceral intestinal veins and especially Budd-Chiari syndrome (Smalberg JH, et.al., 2012). These causes of hospitalization may be the first manifestations of MPN.
Aims
Evaluate the frequency of the JAK2 V617F mutation in different cohorts of hospital patients and blood donors.
Methods
Allele-specific RT PCR was performed to detect of the JAK2 V617F allele load in whole blood samples among the following groups: healthy blood donors, patients who were included in the program of routine inspections, patients who were are hospitalized in general hospitals, as well as those who were directed by hematologist with suspected to MPN.
Results
The frequency of the JAK2 V617F mutation was maximal when the patients were directed by a hematologist with MPN suspected (Table 1). Minimum prevalence was observed in healthy blood donors. Among patients from non-hematological hospital departments 12% cases (3 of 24 patients) with JAK2-V617F had ischemic stroke. Participation in voluntarily medical examination reveals patients with mutation but who have no any hematological abnormalities in 95% cases were directed by hematologist with suspected to MPN.Table 1. JAK2 V617F mutation frequency among cohorts
| Cohort | Total surveyed | JAK2-V617F positive patients,n (%) | JAK2-V617Fallele load, (%) (Me (Min-Max)) | Age(Me (Min-Max)) |
| Blood donors | 1149 | 8 (0.7) | 0.47 (0.07-2.58) | 39 (18-67) |
| In baseline medical examination | 1515 | 17 (1.12) | 0.26 (0.05-0.18) | 53 (45-80) |
| From not hematological hospital departments | 1290 | 24 (1.86) | 0.84 (0.04-48.8) | 57 (16-90) |
| Directed by hematologist | 903 | 301 (33.3) | 32.0 (0.06-97.0) | 54.0 (16-100) |
Conclusion
High risk of thrombosis and of the MPN development, as well as the potential risk of transmission of the transformed cell clone to recipients of the bone marrow and blood, raises the issue of screening for JAK2 V617F among some cohorts of patients. An analysis of 'benefit - harm', taking into account the effectiveness of preventive measures will be the subject of additional studies.
Session topic: E-poster
Keyword(s): Ischemic stroke, Myeloproliferative disorder, Prophylaxis
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