JAK2, MPL, AND CALR MUTATIONS IN CHINESE HAN PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA
(Abstract release date: 05/19/16)
EHA Library. XU J. 06/09/16; 134937; PB2037
Ms. Jingyan XU
Contributions
Contributions
Abstract
Abstract: PB2037
Type: Publication Only
Background
Essential thrombocythemia (ET) is a chronic Philadelphia chromosome-negative myeloproliferative neoplasm characterized by the overproduction of circulating platelets in the periphery due to the excessive proliferation of megakaryocytes in the bone marrow [1]. The recurrent Janus kinase 2 (JAK2) V617F mutation has been an important molecular marker for myeloproliferative neoplasms (MPNs) since its discovery in 2005 [2]. However, only 50-60% of ET cases are associated with the JAK2 V617F mutation. Among the 40% of patients with ET who lack the JAK2 V617F mutation, 3-5% carry mutations at codon 515 of the gene encoding the thrombopoietin receptor, a myeloproliferative leukemia virus oncogene (MPL) [3]. In 2013, somatic mutations in calreticulin (CALR) were found in 20 to 25% of patients with ET or primary myelofibrosis (PMF) [4,5]. Like JAK2 and MPL mutations, somatic mutations of Calreticulin (CALR) have been identified as a potentially powerful diagnostic tool for patients with ET [6].
Aims
we studied a population of patients with ET and analyzed the frequency of JAK2, CALR, or MPL mutations as well as patients’ hematological characteristics.
Methods
The patients and the data were selected retrospectively from the myeloproliferative neoplasm database established for scientific research at the Department of Hematology of Drum Tower Hospital. A total of 110 patients with ET were enrolled (60 females and 50 males with a mean age of 55.7 years, range 13–88 years); they had been diagnosed at the Department of Hematology between 2012 and 2015 according to the WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues (2008)[7]. The clinical and laboratory data were reviewed from medical records.
Results
Among the 110 patients tested, JAK2 V617F was the most common mutation, observed in 62 patients (56.3%), while CALR mutations were detected in 21 patients (19.1%). One patient (0.9%) carried the MPL W515L mutation. A mutation in JAK2 exon 12 was not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. The incidence of triple-negative (negative for JAK2/MPL/CALR) patients was 25.5% (28/110).
Conclusion
In summary, we have described the mutation profile of our Chinese cohort of ET patients. CALR mutations are a useful diagnostic marker for JAK2/MPL-negative ET patients because they are typically mutually exclusive with a JAK2 mutation and are present in a relatively high frequency.
Session topic: E-poster
Keyword(s): Mutation, Thrombocythemia
Type: Publication Only
Background
Essential thrombocythemia (ET) is a chronic Philadelphia chromosome-negative myeloproliferative neoplasm characterized by the overproduction of circulating platelets in the periphery due to the excessive proliferation of megakaryocytes in the bone marrow [1]. The recurrent Janus kinase 2 (JAK2) V617F mutation has been an important molecular marker for myeloproliferative neoplasms (MPNs) since its discovery in 2005 [2]. However, only 50-60% of ET cases are associated with the JAK2 V617F mutation. Among the 40% of patients with ET who lack the JAK2 V617F mutation, 3-5% carry mutations at codon 515 of the gene encoding the thrombopoietin receptor, a myeloproliferative leukemia virus oncogene (MPL) [3]. In 2013, somatic mutations in calreticulin (CALR) were found in 20 to 25% of patients with ET or primary myelofibrosis (PMF) [4,5]. Like JAK2 and MPL mutations, somatic mutations of Calreticulin (CALR) have been identified as a potentially powerful diagnostic tool for patients with ET [6].
Aims
we studied a population of patients with ET and analyzed the frequency of JAK2, CALR, or MPL mutations as well as patients’ hematological characteristics.
Methods
The patients and the data were selected retrospectively from the myeloproliferative neoplasm database established for scientific research at the Department of Hematology of Drum Tower Hospital. A total of 110 patients with ET were enrolled (60 females and 50 males with a mean age of 55.7 years, range 13–88 years); they had been diagnosed at the Department of Hematology between 2012 and 2015 according to the WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues (2008)[7]. The clinical and laboratory data were reviewed from medical records.
Results
Among the 110 patients tested, JAK2 V617F was the most common mutation, observed in 62 patients (56.3%), while CALR mutations were detected in 21 patients (19.1%). One patient (0.9%) carried the MPL W515L mutation. A mutation in JAK2 exon 12 was not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. The incidence of triple-negative (negative for JAK2/MPL/CALR) patients was 25.5% (28/110).
Conclusion
In summary, we have described the mutation profile of our Chinese cohort of ET patients. CALR mutations are a useful diagnostic marker for JAK2/MPL-negative ET patients because they are typically mutually exclusive with a JAK2 mutation and are present in a relatively high frequency.
Session topic: E-poster
Keyword(s): Mutation, Thrombocythemia
Abstract: PB2037
Type: Publication Only
Background
Essential thrombocythemia (ET) is a chronic Philadelphia chromosome-negative myeloproliferative neoplasm characterized by the overproduction of circulating platelets in the periphery due to the excessive proliferation of megakaryocytes in the bone marrow [1]. The recurrent Janus kinase 2 (JAK2) V617F mutation has been an important molecular marker for myeloproliferative neoplasms (MPNs) since its discovery in 2005 [2]. However, only 50-60% of ET cases are associated with the JAK2 V617F mutation. Among the 40% of patients with ET who lack the JAK2 V617F mutation, 3-5% carry mutations at codon 515 of the gene encoding the thrombopoietin receptor, a myeloproliferative leukemia virus oncogene (MPL) [3]. In 2013, somatic mutations in calreticulin (CALR) were found in 20 to 25% of patients with ET or primary myelofibrosis (PMF) [4,5]. Like JAK2 and MPL mutations, somatic mutations of Calreticulin (CALR) have been identified as a potentially powerful diagnostic tool for patients with ET [6].
Aims
we studied a population of patients with ET and analyzed the frequency of JAK2, CALR, or MPL mutations as well as patients’ hematological characteristics.
Methods
The patients and the data were selected retrospectively from the myeloproliferative neoplasm database established for scientific research at the Department of Hematology of Drum Tower Hospital. A total of 110 patients with ET were enrolled (60 females and 50 males with a mean age of 55.7 years, range 13–88 years); they had been diagnosed at the Department of Hematology between 2012 and 2015 according to the WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues (2008)[7]. The clinical and laboratory data were reviewed from medical records.
Results
Among the 110 patients tested, JAK2 V617F was the most common mutation, observed in 62 patients (56.3%), while CALR mutations were detected in 21 patients (19.1%). One patient (0.9%) carried the MPL W515L mutation. A mutation in JAK2 exon 12 was not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. The incidence of triple-negative (negative for JAK2/MPL/CALR) patients was 25.5% (28/110).
Conclusion
In summary, we have described the mutation profile of our Chinese cohort of ET patients. CALR mutations are a useful diagnostic marker for JAK2/MPL-negative ET patients because they are typically mutually exclusive with a JAK2 mutation and are present in a relatively high frequency.
Session topic: E-poster
Keyword(s): Mutation, Thrombocythemia
Type: Publication Only
Background
Essential thrombocythemia (ET) is a chronic Philadelphia chromosome-negative myeloproliferative neoplasm characterized by the overproduction of circulating platelets in the periphery due to the excessive proliferation of megakaryocytes in the bone marrow [1]. The recurrent Janus kinase 2 (JAK2) V617F mutation has been an important molecular marker for myeloproliferative neoplasms (MPNs) since its discovery in 2005 [2]. However, only 50-60% of ET cases are associated with the JAK2 V617F mutation. Among the 40% of patients with ET who lack the JAK2 V617F mutation, 3-5% carry mutations at codon 515 of the gene encoding the thrombopoietin receptor, a myeloproliferative leukemia virus oncogene (MPL) [3]. In 2013, somatic mutations in calreticulin (CALR) were found in 20 to 25% of patients with ET or primary myelofibrosis (PMF) [4,5]. Like JAK2 and MPL mutations, somatic mutations of Calreticulin (CALR) have been identified as a potentially powerful diagnostic tool for patients with ET [6].
Aims
we studied a population of patients with ET and analyzed the frequency of JAK2, CALR, or MPL mutations as well as patients’ hematological characteristics.
Methods
The patients and the data were selected retrospectively from the myeloproliferative neoplasm database established for scientific research at the Department of Hematology of Drum Tower Hospital. A total of 110 patients with ET were enrolled (60 females and 50 males with a mean age of 55.7 years, range 13–88 years); they had been diagnosed at the Department of Hematology between 2012 and 2015 according to the WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues (2008)[7]. The clinical and laboratory data were reviewed from medical records.
Results
Among the 110 patients tested, JAK2 V617F was the most common mutation, observed in 62 patients (56.3%), while CALR mutations were detected in 21 patients (19.1%). One patient (0.9%) carried the MPL W515L mutation. A mutation in JAK2 exon 12 was not detected in any patient. Two ET patients had both CALR and JAK2 V617F mutations. The incidence of triple-negative (negative for JAK2/MPL/CALR) patients was 25.5% (28/110).
Conclusion
In summary, we have described the mutation profile of our Chinese cohort of ET patients. CALR mutations are a useful diagnostic marker for JAK2/MPL-negative ET patients because they are typically mutually exclusive with a JAK2 mutation and are present in a relatively high frequency.
Session topic: E-poster
Keyword(s): Mutation, Thrombocythemia
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