[JAK2, CALR]

Area of Science:

• Hematology
• Molecular Biology
• Oncology

Background:

• BCR/ABL-negative myeloproliferative neoplasms (MPN), including polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF), represent significant hematologic malignancies.
• The discovery of the JAK2 V617F mutation in 2005 marked a breakthrough in understanding MPN pathogenesis.
• Subsequent identification of JAK2 Exon 12, MPL, and CALR mutations revealed their roles as driver mutations in nearly all BCR/ABL-negative MPN cases.

Purpose of the Study:

• To review the diagnostic significance of gene mutation analysis in BCR/ABL-negative myeloproliferative neoplasms.
• To highlight the evolution of MPN classification incorporating genetic findings.
• To emphasize the increasing importance of molecular diagnostics in MPN.

Main Methods:

• Review of scientific literature on genetic mutations in MPN.
• Analysis of diagnostic criteria evolution in MPN classification.
• Discussion of the role of JAK2, MPL, and CALR gene mutations.

Main Results:

• The JAK2 V617F mutation is a common genetic alteration in MPN.
• JAK2 Exon 12, MPL, and CALR mutations are also prevalent driver mutations in BCR/ABL-negative MPN.
• Gene mutation analysis is now integral to the WHO 2016 classification criteria for MPN.

Conclusions:

• Genetic mutation analysis of JAK2, MPL, and CALR is indispensable for diagnosing MPN.
• The diagnostic utility and importance of molecular testing in MPN management are continuously increasing.
• Accurate molecular profiling is essential for classifying and managing MPN.