The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms |
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Authors: | Tanja Bel
i
Miki
Tadej Paji
Samo Zver Matja Sever |
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Affiliation: | 1.Department of Hematology, University Medical Centre Ljubljana, Zaloška 7, 1000 Ljubljana, Slovenia; (S.Z.); (M.S.);2.Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia;3.Clinical Institute for Genomic Medicine, University Medical Centre Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia;4.Faculty of Medicine, University of Maribor, Taborska Ulica 8, 2000 Maribor, Slovenia |
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Abstract: | CALR mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several CALR 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 CALR 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 CALR-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 CALR mutants and the understanding of its implementation in the current diagnostic laboratorial and medical practice. Different methods of CALR detection are explained and a diagnostic algorithm is shown that aids in the approach to CALR-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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Keywords: | calreticulin chaperone calcium myeloproliferative neoplasm diagnostics thrombocythemia artificial intelligence |
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