Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects

Abstract

Purpose: The aim of this study to discuss frequency and clinical significance of JAK2-V617F, Calreticulin (CALR type 1 and type-2) and MPL-W515K/L mutations in patients at initial diagnosis of bcr-abl negative chronic myeloproliferative diseases (CMPD).

Materials and Methods: In this study, the demographic characteristics, subtype, risk status and mutation analysis were investigated between July 2017 and March 2019 in patients diagnosed with bcr-abl negative CMPD.

Results: JAK2 V617F mutation was detected in sum of 27 patients, 18 of them (85,7%) diagnosed with polycythemia vera (PV) and rest of them (N=9, 56,2%) diagnosed with essential thrombocytosis (ET). Calreticulin mutation was positive in 4 (57,1%) patients, who were also JAK2 V617F negative, diagnosed with ET. CALR-type 1 mutation was detected in three patients and CALR-type 2 was in one. MPL-W515K/L was not detected in any of patients diagnosed with ET. Thrombotic event was accompanied 12,6% of patients with PV and 6,25% patients with ET. Splenomegaly was noted in 14 (37,8%) of patients.

Conclusion: Pathogenesis, classification, and risk groups of CMPD have been well characterized with the identification of some genetic mutations in recent years. JAK2 V617F, CALR and MPL are the most common somatic mutations in the pathogenesis of CMPD, which are important in the diagnosis, risk classification and follow-up of the disease and gain importance in personalized medicine.