Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CAL...
Ausführliche Beschreibung
Autor*in: |
Hyun-Young Kim [verfasserIn] Yujin Han [verfasserIn] Jun Ho Jang [verfasserIn] Chul Won Jung [verfasserIn] Sun-Hee Kim [verfasserIn] Hee-Jin Kim [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Übergeordnetes Werk: |
In: Diagnostics - MDPI AG, 2012, 12(2022), 11, p 2570 |
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Übergeordnetes Werk: |
volume:12 ; year:2022 ; number:11, p 2570 |
Links: |
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DOI / URN: |
10.3390/diagnostics12112570 |
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Katalog-ID: |
DOAJ025846450 |
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10.3390/diagnostics12112570 doi (DE-627)DOAJ025846450 (DE-599)DOAJdc08b5a2ce3a46529ca4ea892b9638cc DE-627 ger DE-627 rakwb eng R5-920 Hyun-Young Kim verfasserin aut Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia Medicine (General) Yujin Han verfasserin aut Jun Ho Jang verfasserin aut Chul Won Jung verfasserin aut Sun-Hee Kim verfasserin aut Hee-Jin Kim verfasserin aut In Diagnostics MDPI AG, 2012 12(2022), 11, p 2570 (DE-627)718627814 (DE-600)2662336-5 20754418 nnns volume:12 year:2022 number:11, p 2570 https://doi.org/10.3390/diagnostics12112570 kostenfrei https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc kostenfrei https://www.mdpi.com/2075-4418/12/11/2570 kostenfrei https://doaj.org/toc/2075-4418 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 11, p 2570 |
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10.3390/diagnostics12112570 doi (DE-627)DOAJ025846450 (DE-599)DOAJdc08b5a2ce3a46529ca4ea892b9638cc DE-627 ger DE-627 rakwb eng R5-920 Hyun-Young Kim verfasserin aut Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia Medicine (General) Yujin Han verfasserin aut Jun Ho Jang verfasserin aut Chul Won Jung verfasserin aut Sun-Hee Kim verfasserin aut Hee-Jin Kim verfasserin aut In Diagnostics MDPI AG, 2012 12(2022), 11, p 2570 (DE-627)718627814 (DE-600)2662336-5 20754418 nnns volume:12 year:2022 number:11, p 2570 https://doi.org/10.3390/diagnostics12112570 kostenfrei https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc kostenfrei https://www.mdpi.com/2075-4418/12/11/2570 kostenfrei https://doaj.org/toc/2075-4418 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 11, p 2570 |
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10.3390/diagnostics12112570 doi (DE-627)DOAJ025846450 (DE-599)DOAJdc08b5a2ce3a46529ca4ea892b9638cc DE-627 ger DE-627 rakwb eng R5-920 Hyun-Young Kim verfasserin aut Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia Medicine (General) Yujin Han verfasserin aut Jun Ho Jang verfasserin aut Chul Won Jung verfasserin aut Sun-Hee Kim verfasserin aut Hee-Jin Kim verfasserin aut In Diagnostics MDPI AG, 2012 12(2022), 11, p 2570 (DE-627)718627814 (DE-600)2662336-5 20754418 nnns volume:12 year:2022 number:11, p 2570 https://doi.org/10.3390/diagnostics12112570 kostenfrei https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc kostenfrei https://www.mdpi.com/2075-4418/12/11/2570 kostenfrei https://doaj.org/toc/2075-4418 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 11, p 2570 |
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10.3390/diagnostics12112570 doi (DE-627)DOAJ025846450 (DE-599)DOAJdc08b5a2ce3a46529ca4ea892b9638cc DE-627 ger DE-627 rakwb eng R5-920 Hyun-Young Kim verfasserin aut Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia Medicine (General) Yujin Han verfasserin aut Jun Ho Jang verfasserin aut Chul Won Jung verfasserin aut Sun-Hee Kim verfasserin aut Hee-Jin Kim verfasserin aut In Diagnostics MDPI AG, 2012 12(2022), 11, p 2570 (DE-627)718627814 (DE-600)2662336-5 20754418 nnns volume:12 year:2022 number:11, p 2570 https://doi.org/10.3390/diagnostics12112570 kostenfrei https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc kostenfrei https://www.mdpi.com/2075-4418/12/11/2570 kostenfrei https://doaj.org/toc/2075-4418 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 11, p 2570 |
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10.3390/diagnostics12112570 doi (DE-627)DOAJ025846450 (DE-599)DOAJdc08b5a2ce3a46529ca4ea892b9638cc DE-627 ger DE-627 rakwb eng R5-920 Hyun-Young Kim verfasserin aut Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia Medicine (General) Yujin Han verfasserin aut Jun Ho Jang verfasserin aut Chul Won Jung verfasserin aut Sun-Hee Kim verfasserin aut Hee-Jin Kim verfasserin aut In Diagnostics MDPI AG, 2012 12(2022), 11, p 2570 (DE-627)718627814 (DE-600)2662336-5 20754418 nnns volume:12 year:2022 number:11, p 2570 https://doi.org/10.3390/diagnostics12112570 kostenfrei https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc kostenfrei https://www.mdpi.com/2075-4418/12/11/2570 kostenfrei https://doaj.org/toc/2075-4418 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 11, p 2570 |
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Hyun-Young Kim @@aut@@ Yujin Han @@aut@@ Jun Ho Jang @@aut@@ Chul Won Jung @@aut@@ Sun-Hee Kim @@aut@@ Hee-Jin Kim @@aut@@ |
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Hyun-Young Kim |
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Hyun-Young Kim misc R5-920 misc <i<CALR</i< misc type 1 mutation misc type 2 mutation misc mutant burden misc myeloproliferative neoplasm misc essential thrombocythemia misc Medicine (General) Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms |
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R5-920 Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms <i<CALR</i< type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia |
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effects of <i<calr</i<-mutant type and burden on the phenotype of myeloproliferative neoplasms |
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Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms |
abstract |
Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. |
abstractGer |
Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. |
abstract_unstemmed |
Somatic <i<CALR</i< mutations occur in approximately 70% of patients with <i<JAK2</i< V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. This study suggests that the disease phenotype of MPN may be altered through <i<CALR</i< mutant burden and mutant type. |
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Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms |
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We evaluated the effects of the <i<CALR</i< mutant type and burden on the phenotype of <i<CALR</i<-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with <i<CALR</i< mutations were diagnosed with ET (n = 32) or PMF (n = 17). The <i<CALR</i< mutant burden was significantly higher in PMF than in ET (45% vs. 34%), and type 1-like and type 2-like mutations were detected in 49% and 51% patients, respectively. Patients with MPN and type 2-like mutation showed a significantly higher median platelet count than those with type 1-like mutation. Particularly, patients with ET and type 2-like mutation had no thrombotic events, despite higher platelet counts. The effect of <i<CALR</i< mutant burden differed depending on the mutant type. A higher mutant burden tended to be associated with a cytopenic phenotype (i.e., lower hemoglobin levels and platelet counts) in patients with the type 1-like mutation and a proliferative hematological phenotype (i.e., higher platelet and neutrophil counts) in patients with the type 2-like mutation. 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