Can Heterogenic Patterns of JAK۲, 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; JAK۲, MPL, CALR. The mutations of mentioned genes in ۵۰ patients with MPN and ۵۰ healthy volunteers were determined via allele-specific PCR and sequencing. Based on the results, MPN and its subtypes have significant relation with mutations (p<۰.۰۵). JAK۲ (exon ۱۴) mutation was related to MPN and its subtypes except for ET and CALR (exon ۹) type ۱ was merely related to ET, but CALR (exon ۹) type ۲ mutation was more prevalent in MPN and PV (p<۰.۰۵). None of the mutations co-occurred simultaneously. There was no evidence of mutation in JAK۲ (exon ۱۲) and MPL (exon ۹ and ۱۰) in our study, so they are unsuitable diagnostic candidates. So, mutations in JAK۲ (exon ۱۴), and CALR (exon ۹) type ۱ and ۲ are essential in MPN diagnosis in Iranians.

Keywords:

JAK۲ , MPL , CALR , MPD , Myeloproliferative neoplasm