The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms
<i>CALR</i> mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several <i>CALR</i> mutations were identified, with only frameshift mutation...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/22/7/3371 |
| Summary: | <i>CALR</i> mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several <i>CALR</i> mutations were identified, with only frameshift mutations linked to the diseased phenotype. It is of diagnostic and prognostic importance to properly define the type of <i>CALR</i> mutation and subclassify it according to its structural similarities to the classical mutations, a 52-bp deletion (type 1 mutation) and a 5-bp insertion (type 2 mutation), using a statistical approximation algorithm (AGADIR). Today, the knowledge on the pathogenesis of <i>CALR</i>-positive MPN is expanding and several cellular mechanisms have been recognized that finally cause a clonal hematopoietic expansion. In this review, we discuss the current basis of the cellular effects of <i>CALR</i> mutants and the understanding of its implementation in the current diagnostic laboratorial and medical practice. Different methods of <i>CALR</i> detection are explained and a diagnostic algorithm is shown that aids in the approach to <i>CALR</i>-positive MPN. Finally, contemporary methods joining artificial intelligence in accordance with molecular-genetic biomarkers in the approach to MPN are presented. |
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| ISSN: | 1661-6596 1422-0067 |