A Novel JAK2 Exon 12 Mutation Identified in the Retrospective Analysis of Paraffin-embedded Tissues of Polycythemia Vera Patients
The aim of the study was to screen formalin-fixed, paraffin-embedded tissues of polycythemia vera patients for the presence of JAK2 and JAK2 exon 12 mutations. Of 64 cases, 60 were positive for JAK2 mutation using allele-specific polymerase chain reaction (PCR). Using modified allele-specific PCR, s...
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Veröffentlicht in: | Diagnostic molecular pathology 2009-06, Vol.18 (2), p.108-111 |
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Sprache: | eng |
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Zusammenfassung: | The aim of the study was to screen formalin-fixed, paraffin-embedded tissues of polycythemia vera patients for the presence of JAK2 and JAK2 exon 12 mutations. Of 64 cases, 60 were positive for JAK2 mutation using allele-specific polymerase chain reaction (PCR). Using modified allele-specific PCR, samples of 4 JAK2-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 JAK2-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. |
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ISSN: | 1052-9551 1533-4066 |
DOI: | 10.1097/PDM.0b013e318190eed0 |