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Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms

Somatic CALR mutations occur in approximately 70% of patients with JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the CALR mutant type and burden on the phenotype of CALR-mutated myeloproliferative neoplasms (MPN). Of the 510 patients...

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Autores principales: Kim, Hyun-Young, Han, Yujin, Jang, Jun Ho, Jung, Chul Won, Kim, Sun-Hee, Kim, Hee-Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689478/
https://www.ncbi.nlm.nih.gov/pubmed/36359414
http://dx.doi.org/10.3390/diagnostics12112570
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author Kim, Hyun-Young
Han, Yujin
Jang, Jun Ho
Jung, Chul Won
Kim, Sun-Hee
Kim, Hee-Jin
author_facet Kim, Hyun-Young
Han, Yujin
Jang, Jun Ho
Jung, Chul Won
Kim, Sun-Hee
Kim, Hee-Jin
author_sort Kim, Hyun-Young
collection PubMed
description Somatic CALR mutations occur in approximately 70% of patients with JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the CALR mutant type and burden on the phenotype of CALR-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with CALR mutations were diagnosed with ET (n = 32) or PMF (n = 17). The CALR 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 CALR 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 CALR mutant burden and mutant type.
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spelling pubmed-96894782022-11-25 Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms Kim, Hyun-Young Han, Yujin Jang, Jun Ho Jung, Chul Won Kim, Sun-Hee Kim, Hee-Jin Diagnostics (Basel) Article Somatic CALR mutations occur in approximately 70% of patients with JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the CALR mutant type and burden on the phenotype of CALR-mutated myeloproliferative neoplasms (MPN). Of the 510 patients with suspected or diagnosed MPN, all 49 patients detected with CALR mutations were diagnosed with ET (n = 32) or PMF (n = 17). The CALR 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 CALR 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 CALR mutant burden and mutant type. MDPI 2022-10-23 /pmc/articles/PMC9689478/ /pubmed/36359414 http://dx.doi.org/10.3390/diagnostics12112570 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kim, Hyun-Young
Han, Yujin
Jang, Jun Ho
Jung, Chul Won
Kim, Sun-Hee
Kim, Hee-Jin
Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title_full Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title_fullStr Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title_full_unstemmed Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title_short Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
title_sort effects of calr-mutant type and burden on the phenotype of myeloproliferative neoplasms
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689478/
https://www.ncbi.nlm.nih.gov/pubmed/36359414
http://dx.doi.org/10.3390/diagnostics12112570
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