INCIDENCE OF CALR MUTATIONS IN COHORT OF MPD PATIENCE FROM RUSSIAN FEDERATION
(Abstract release date: 05/21/15)
EHA Library. Butylin P. 06/12/15; 102929; PB1902
Disclosure(s): North-West Federal medical research center (Almazov institute)Hematology Insitutte
Pavel Butylin
Contributions
Contributions
Abstract
Abstract: PB1902
Type: Publication Only
Background
Since discovery of mutation in 9th exon of the CALR gene in 2013, molecular diagnostics of ET and PMF by analysis of JAK2V617F, CALR and MPL515L/K mutations became standard in many of the research centers in the world. In this study we are for the first time reporting incidence of abovementioned mutations in patients from Russian Federation.
Aims
This study aimed to reveal incidence of mutation in calreticulin encoding gene in patients with myeloproloferative deseases: PV, ET, PMF.
Methods
Patients: DNA from peripheral blood of 103 patients diagnosed with PV, ET, and PMF tested for the mutations. Patients group was sex balanced 54F/49M. Average age was 52 years. For JAK2V617F and MPL515L/K detection allele specific real-time PCR with specific primers set were used (Genotechnology, Russia). CALR mutations were detected by Sanger sequencing of the C-end coding region, as described earlier (1).
Results
Results of patints test presented in table. We did not found any cases with simultaneous appearance of two mutations in one patient. PMF patient with MPL515L mutation also have co appearence of BCR-ABL chimera. Calreticulin mutations were mostly type1 -deletions of 52 bp (15 cases), type 2 - insertions of 5bp (4 cases) and deletions other than 52bp (2 cases). CALR mutated patients were no younger than average – mean 57 years old (from 20 to 77). Also, we did not observe any significant correlation between type of the mutation and age/sex/complications.
Summary
Incidence of the JAK2V617F, CALR and MPL515l/L in studied patient group is similar to the one reported in European centers. We did not find correlation of CALR mutation status with younger age, as described previously. No thrombotic events were found in ET patients with CALR mutations.
Keyword(s): Essential Thrombocytemia, Mutation analysis, Myelofibrosis, Polycythemia vera
Session topic: Publication Only
Type: Publication Only
Background
Since discovery of mutation in 9th exon of the CALR gene in 2013, molecular diagnostics of ET and PMF by analysis of JAK2V617F, CALR and MPL515L/K mutations became standard in many of the research centers in the world. In this study we are for the first time reporting incidence of abovementioned mutations in patients from Russian Federation.
Aims
This study aimed to reveal incidence of mutation in calreticulin encoding gene in patients with myeloproloferative deseases: PV, ET, PMF.
Methods
Patients: DNA from peripheral blood of 103 patients diagnosed with PV, ET, and PMF tested for the mutations. Patients group was sex balanced 54F/49M. Average age was 52 years. For JAK2V617F and MPL515L/K detection allele specific real-time PCR with specific primers set were used (Genotechnology, Russia). CALR mutations were detected by Sanger sequencing of the C-end coding region, as described earlier (1).
1. Nangalia J, et al., Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013 Dec 19;369(25):2391-405.
Results
Results of patints test presented in table. We did not found any cases with simultaneous appearance of two mutations in one patient. PMF patient with MPL515L mutation also have co appearence of BCR-ABL chimera. Calreticulin mutations were mostly type1 -deletions of 52 bp (15 cases), type 2 - insertions of 5bp (4 cases) and deletions other than 52bp (2 cases). CALR mutated patients were no younger than average – mean 57 years old (from 20 to 77). Also, we did not observe any significant correlation between type of the mutation and age/sex/complications.
Summary
Incidence of the JAK2V617F, CALR and MPL515l/L in studied patient group is similar to the one reported in European centers. We did not find correlation of CALR mutation status with younger age, as described previously. No thrombotic events were found in ET patients with CALR mutations.
Keyword(s): Essential Thrombocytemia, Mutation analysis, Myelofibrosis, Polycythemia vera
Session topic: Publication Only
Abstract: PB1902
Type: Publication Only
Background
Since discovery of mutation in 9th exon of the CALR gene in 2013, molecular diagnostics of ET and PMF by analysis of JAK2V617F, CALR and MPL515L/K mutations became standard in many of the research centers in the world. In this study we are for the first time reporting incidence of abovementioned mutations in patients from Russian Federation.
Aims
This study aimed to reveal incidence of mutation in calreticulin encoding gene in patients with myeloproloferative deseases: PV, ET, PMF.
Methods
Patients: DNA from peripheral blood of 103 patients diagnosed with PV, ET, and PMF tested for the mutations. Patients group was sex balanced 54F/49M. Average age was 52 years. For JAK2V617F and MPL515L/K detection allele specific real-time PCR with specific primers set were used (Genotechnology, Russia). CALR mutations were detected by Sanger sequencing of the C-end coding region, as described earlier (1).
Results
Results of patints test presented in table. We did not found any cases with simultaneous appearance of two mutations in one patient. PMF patient with MPL515L mutation also have co appearence of BCR-ABL chimera. Calreticulin mutations were mostly type1 -deletions of 52 bp (15 cases), type 2 - insertions of 5bp (4 cases) and deletions other than 52bp (2 cases). CALR mutated patients were no younger than average – mean 57 years old (from 20 to 77). Also, we did not observe any significant correlation between type of the mutation and age/sex/complications.
Summary
Incidence of the JAK2V617F, CALR and MPL515l/L in studied patient group is similar to the one reported in European centers. We did not find correlation of CALR mutation status with younger age, as described previously. No thrombotic events were found in ET patients with CALR mutations.
Keyword(s): Essential Thrombocytemia, Mutation analysis, Myelofibrosis, Polycythemia vera
Session topic: Publication Only
Type: Publication Only
Background
Since discovery of mutation in 9th exon of the CALR gene in 2013, molecular diagnostics of ET and PMF by analysis of JAK2V617F, CALR and MPL515L/K mutations became standard in many of the research centers in the world. In this study we are for the first time reporting incidence of abovementioned mutations in patients from Russian Federation.
Aims
This study aimed to reveal incidence of mutation in calreticulin encoding gene in patients with myeloproloferative deseases: PV, ET, PMF.
Methods
Patients: DNA from peripheral blood of 103 patients diagnosed with PV, ET, and PMF tested for the mutations. Patients group was sex balanced 54F/49M. Average age was 52 years. For JAK2V617F and MPL515L/K detection allele specific real-time PCR with specific primers set were used (Genotechnology, Russia). CALR mutations were detected by Sanger sequencing of the C-end coding region, as described earlier (1).
1. Nangalia J, et al., Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013 Dec 19;369(25):2391-405.
Results
Results of patints test presented in table. We did not found any cases with simultaneous appearance of two mutations in one patient. PMF patient with MPL515L mutation also have co appearence of BCR-ABL chimera. Calreticulin mutations were mostly type1 -deletions of 52 bp (15 cases), type 2 - insertions of 5bp (4 cases) and deletions other than 52bp (2 cases). CALR mutated patients were no younger than average – mean 57 years old (from 20 to 77). Also, we did not observe any significant correlation between type of the mutation and age/sex/complications.
Summary
Incidence of the JAK2V617F, CALR and MPL515l/L in studied patient group is similar to the one reported in European centers. We did not find correlation of CALR mutation status with younger age, as described previously. No thrombotic events were found in ET patients with CALR mutations.
Keyword(s): Essential Thrombocytemia, Mutation analysis, Myelofibrosis, Polycythemia vera
Session topic: Publication Only
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