Can Heterogenic Patterns of JAK2, MPL, and CALR Genes Predict Specific Clinical Characteristics of Myeloproliferative Disorders?

Myeloproliferative neoplasm (MPN) is a neoplasm with three categories; essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) and it usually is diagnosed through mutation analysis in several essential genes; JAK2, MPL, CALR. The mutations of mentioned genes in 50 patients with MPN and 50 healthy volunteers were determined via allele-specific PCR and sequencing. Based on the results, MPN and its subtypes have significant relation with mutations (p<0.05). JAK2 (exon 14) mutation was related to MPN and its subtypes except for ET and CALR (exon 9) type 1 was merely related to ET, but CALR (exon 9) type 2 mutation was more prevalent in MPN and PV (p<0.05). None of the mutations co-occurred simultaneously. There was no evidence of mutation in JAK2 (exon 12) and MPL (exon 9 and 10) in our study, so they are unsuitable diagnostic candidates. So, mutations in JAK2 (exon 14), and CALR (exon 9) type 1 and 2 are essential in MPN diagnosis in Iranians.