This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Rapado, I. Articles by Martinez-Lopez, J. Search for Related Content PubMed PubMed Citation Articles by Rapado, I. Articles by Martinez-Lopez, J.

Journal of Molecular Diagnostics 2009, Vol. 11, No. 2
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.080110

High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations

A Diagnostic Tool for Myeloproliferative Neoplasms

Inmaculada Rapado^*, Silvia Grande^*, Enriqueta Albizua^*, Rosa Ayala^*, José-Angel Hernández, Miguel Gallardo^*, Florinda Gilsanz^* and Joaquin Martinez-Lopez^*

From the Hematology Service, * Hospital Universitario, Madrid; and the Hematology Service, Hospital Infanta Leonor, Madrid, Spain

JAK2 mutations are important criteria for the diagnosis of Philadelphia chromosome-negative myeloproliferative neoplasms. We aimed to assess JAK2 exon 14 and exon 12 mutations by high-resolution melting (HRM) analysis, which allows variation screening. The exon 14 analysis included 163 patients with polycythemia vera, secondary erythrocytoses, essential thrombocythemia, or secondary thrombocytoses, and 126 healthy subjects. The study of exon 12 included 40 JAK2 V617F-negative patients (nine of which had polycythemia vera, and 31 with splanchnic vein thrombosis) and 30 healthy subjects. HRM analyses of JAK2 exons 14 and 12 gave analytical sensitivities near 1% and both intra- and interday coefficients of variation of less than 1%. For HRM analysis of JAK2 exon 14 in polycythemia vera and essential thrombocythemia, clinical sensitivities were 93.5% and 67.9%, clinical specificities were 98.8% and 97.0%, positive predictive values were 93.5% and 79.2%, and negative predictive values were 98.8% and 94.6, respectively. Correlations were observed between the results from HRM and three commonly used analytical methods. The JAK2 exon 12 HRM results agreed completely with those from sequencing analysis, and the three mutations in exon 12 were detected by both methods. Hence, HRM analysis of exons 14 and 12 in JAK2 shows better diagnostic values than three other routinely used methods against which it was compared. In addition, HRM analysis has the advantage of detecting unknown mutations.

This article has been cited by other articles:

				O. Fuster, E. Barragan, P. Bolufer, J. Cervera, M. J. Larrayoz, A. Jimenez-Velasco, J. Martinez-Lopez, A. Valencia, F. Moscardo, and M. A. Sanz Rapid Detection of KIT Mutations in Core-Binding Factor Acute Myeloid Leukemia Using High-Resolution Melting Analysis J. Mol. Diagn., September 1, 2009; 11(5): 458 - 463. [Abstract] [Full Text] [PDF]