The contemporary approach to CALR-positive myeloproliferative neoplasms

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

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.

• Jezik: Angleški jezik
• Ključne besede: calreticulin, chaperone, calcium, myeloproliferative neoplasm, diagnostics, thrombocythemia, artificial intelligence
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.02 - Pregledni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2021
• Št. strani: 16 str.
• Številčenje: Vol. 22, iss. 7, art. 3371
• PID: 20.500.12556/RUL-135222
• UDK: 616.1
• ISSN pri članku: 1422-0067
• DOI: 10.3390/ijms22073371
• COBISS.SI-ID: 57640451
• Datum objave v RUL: 01.03.2022

Gradivo je del revije

• Naslov: International journal of molecular sciences
• Skrajšan naslov: Int. j. mol. sci.
• Založnik: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 01.04.2021

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: kalcij, mieloproliferativne neoplazme, diagnostika, trombocitemija, umetna inteligenca

Projekti

• Financer: Drugi - Drug financer ali več financerjev
• Program financ.: Department of Hematology

• Financer: Drugi - Drug financer ali več financerjev
• Program financ.: Clinical Institute for Genomic Medicine