Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasmsopen access
- Authors
- Kim, HY[Kim, Hyun-Young]; Han, Y[Han, Yujin]; Jang, JH[Jang, Jun Ho]; Jung, CW[Jung, Chul Won]; Kim, SH[Kim, Sun-Hee]; Kim, HJ[Kim, Hee-Jin]
- Issue Date
- Nov-2022
- Publisher
- MDPI
- Keywords
- CALR; type 1 mutation; type 2 mutation; mutant burden; myeloproliferative neoplasm; essential thrombocythemia; primary myelofibrosis
- Citation
- DIAGNOSTICS, v.12, no.11
- Indexed
- SCIE
SCOPUS
- Journal Title
- DIAGNOSTICS
- Volume
- 12
- Number
- 11
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/102010
- DOI
- 10.3390/diagnostics12112570
- ISSN
- 2075-4418
- Abstract
- 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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Collections - Medicine > Department of Medicine > 1. Journal Articles
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