High resolution melting analysis: a rapid and accurate method to detect CALR mutations.

ABSTRACT:

Background

The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN). We tested the feasibility of high-resolution melting (HRM) as a screening method for rapid detection of CALR mutations.

Methods

CALR was studied in wild-type JAK2/MPL patients including 34 ET, 21 persistent thrombocytosis suggestive of MPN and 98 suspected secondary thrombocytosis. CALR mutation analysis was performed through HRM and Sanger sequencing. We compared clinical features of CALR-mutated versus 45 JAK2/MPL-mutated subjects in ET.

Results

Nineteen samples showed distinct HRM patterns from wild-type. Of th

SUBMITTER: Bilbao-Sieyro C 

PROVIDER: S-EPMC4113452 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature