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

Gespeichert in:

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]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	type 1 mutation type 2 mutation mutant burden myeloproliferative neoplasm essential thrombocythemia

Übergeordnetes Werk:	In: Diagnostics - MDPI AG, 2012, 12(2022), 11, p 2570
Übergeordnetes Werk:	volume:12 ; year:2022 ; number:11, p 2570

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/diagnostics12112570

Katalog-ID:	DOAJ025846450

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allfields	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
spelling	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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allfieldsGer	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
allfieldsSound	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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authorswithroles_txt_mv	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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callnumber-first	R - Medicine
author	Hyun-Young Kim
spellingShingle	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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topic_title	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
topic	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)
topic_unstemmed	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)
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title	Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
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title_full	Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
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author_browse	Hyun-Young Kim Yujin Han Jun Ho Jang Chul Won Jung Sun-Hee Kim Hee-Jin Kim
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title_sort	effects of <i<calr</i<-mutant type and burden on the phenotype of myeloproliferative neoplasms
callnumber	R5-920
title_auth	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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title_short	Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
url	https://doi.org/10.3390/diagnostics12112570 https://doaj.org/article/dc08b5a2ce3a46529ca4ea892b9638cc https://www.mdpi.com/2075-4418/12/11/2570 https://doaj.org/toc/2075-4418
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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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Effects of <i<CALR</i<-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms

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