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A Novel JAK2 Exon 12 Mutation Identified in the Retrospective Analysis of Paraffin-embedded Tissues of Polycythemia Vera Patients

Burjanivova, Tatiana MSc*; Marcinek, Juraj MD*; Lasabova, Zora MD, PhD; Minarik, Gabriel MSc, PhD; Szepe, Peter MD, PhD*; Balharek, Tomas MD*; Vanochova, Andrea; Polacek, Hubert MD§; Plank, Lukas MD, PhD*

Diagnostic Molecular Pathology: June 2009 - Volume 18 - Issue 2 - pp 108-111
doi: 10.1097/PDM.0b013e318190eed0
Original Articles

The aim of the study was to screen formalin-fixed, paraffin-embedded tissues of polycythemia vera patients for the presence of JAK2V617F and JAK2 exon 12 mutations. Of 64 cases, 60 were positive for JAK2V617F mutation using allele-specific polymerase chain reaction (PCR). Using modified allele-specific PCR, samples of 4 JAK2V617F-negative patients were analyzed for the presence of JAK2 exon 12 mutations. In one case, we found a PCR product matching with allele-specific primer, which was designed to detect the N542-E543del mutation. Surprisingly, in the result sequence we have detected another recently described mutation, R541-E543delinsK. In the other 3 JAK2V617F-negative patients, allele-specific PCR for the detection of JAK2 exon 12 mutations did not yield any product. However, in 1 case, the sequencing of JAK2 exon 12 PCR product revealed a novel mutation, H538-K539delinsF. We confirmed that paraffin-embedded tissues represent a valuable source of DNA, which can be used in diagnostics of both JAK2 exon 12 and exon 14 mutations and we described 1 novel JAK2 exon 12 mutation.

*Department of Pathology and National Consultation Center for Hematopathology

§Clinic of Nuclear Medicine, Jessenius Faculty of Medicine and Faculty Hospital

Department of Molecular Biology, Jessenius Faculty of Medicine, Comenius University, Martin

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia

Supported by a grant from Comenius University (UK 430/2008).

Reprints: Tatiana Burjanivova, MSc, Department of Pathology, Faculty Hospital in Martin, Kollarova 2, Martin 036 59, Slovak Republic (e-mail:

Tatiana Burjanivova and Juraj Marcinek have contributed equally to this work.

© 2009 Lippincott Williams & Wilkins, Inc.