Abstract

VIDELA, Yanina Paola et al. Mutations in JAK2, MPL and CALR in myeloproliferative neoplasms: High Resolution Melting analysis. Acta bioquím. clín. latinoam. [online]. 2017, vol.51, n.4, pp.629-636. ISSN 0325-2957.

Polycythemia vera (PV), essential thrombocythemia (TE) and idiopathic myelofibrosis (MI) are Philadelphia chromosome-negative myeloproliferative neoplasms (MPN-Ph. Neg). The presence of the V617F mutation in exon 14 of the JAK2 gene has been described in 90% of cases of PV and 50% of MI and TE. Recently, mutations in exon 10 of the MPL gene and exon 9 of CALR gene have been identified, which are present in 5 to 73% of patients with TE and MI without mutations in JAK2, respectively. In this work, the detection of these mutations was studied in 52 patients with NMP, using real time PCR amplifications with subsequent High Resolution Melting (HRM) analysis and sequencing. A total of 83.3% of patients with PV and 42.8% with MI and TE were recorded as positive for the V617F mutation in JAK2. A total of 6.25% and 56.25% of the patients with MI and TE with non-mutated JAK2 were positive for mutations in MPL exon 10 and CALR exon 9. HRM analysis could be considered an effective diagnostic tool for NMP due to its high sensitivity, low cost and processing time, taking into account the clinical impact that early detection of such mutations could have on patients.

Keywords : Myeloproliferative neoplasms; Mutation; JAK2; CALR; MPL; High resolution melting; Diagnosis.

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