The contemporary approach to CALR-positive myeloproliferative neoplasms

Belčič, Tanja (author), Pajič, Tadej (author), Zver, Samo (author), Sever, Matjaž (author)

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.

• Language: English
• Keywords: calreticulin, chaperone, calcium, myeloproliferative neoplasm, diagnostics, thrombocythemia, artificial intelligence
• Work type: Article
• Typology: 1.02 - Review Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 16 str.
• Numbering: Vol. 22, iss. 7, art. 3371
• PID: 20.500.12556/RUL-135222
• UDC: 616.1
• ISSN on article: 1422-0067
• DOI: 10.3390/ijms22073371
• COBISS.SI-ID: 57640451
• Publication date in RUL: 01.03.2022

Record is a part of a journal

• Title: International journal of molecular sciences
• Shortened title: Int. j. mol. sci.
• Publisher: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 01.04.2021

Secondary language

• Language: Slovenian
• Keywords: kalcij, mieloproliferativne neoplazme, diagnostika, trombocitemija, umetna inteligenca

Projects

• Funder: Other - Other funder or multiple funders
• Funding programme: Department of Hematology

• Funder: Other - Other funder or multiple funders
• Funding programme: Clinical Institute for Genomic Medicine