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(V617F) and JAK2 exon 12 mutations. Of 64 cases, 60 were positive for JAK2(V617F) mutation using allele-specific polymerase chain reaction (PCR). Using modified allele-specific PCR, samples of 4 JAK2(V617F)-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(V617F)-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, Comenius University, Martin, Slovakia. BTatiana@seznam.cz
Tatiana
T
Burjanivova
Juraj
J
Marcinek
Zora
Z
Lasabova
Gabriel
G
Minarik
Peter
P
Szepe
Tomas
T
Balharek
Andrea
A
Vanochova
Hubert
H
Polacek
Lukas
L
Plank
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016612:Paraffin Embedding; D011087:Polycythemia Vera / Q000235:genetics*; D017422:Sequence Analysis, DNA; D016707:Tissue Fixation; D055815:Young Adult
C507924:JAK2 protein, human; D053614:Janus Kinase 2