Japanese Journal of Clinical Oncology Advance Access originally published online on June 2, 2009
Japanese Journal of Clinical Oncology 2009 39(8):509-513; doi:10.1093/jjco/hyp048
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© The Author (2009). Published by Oxford University Press. All rights reserved
Detection of Low Allele Burden of JAK2 Exon 12 Mutations Using TA-cloning in Patients with Erythrocytosis
1 Intractable Disease Research Center, Tokyo Medical University
2 Department of Materials and Life Science, Seikei University
3 First Department of Internal Medicine, Tokyo Medical University, Tokyo, Japan
For reprints and all correspondence: Junko H. Ohyashiki, Intractable Disease Therapeutic Research Center, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan. E-mail: junko{at}hh.iij4u.or.jp
Received January 6, 2009; accepted April 20, 2009
Objective: Polycythemia vera (PV) is a clonal myeloproliferative neoplasia associated with the activation of the Janus-activating kinase 2 (JAK2) mutation. The aim of this study is to identify clonal expansion of exon 12 mutations.
Methods: We performed DNA sequencing of the JAK2 exon 12 after TA-cloning in JAK2-V617F-negative and JAK2-V617F-positive PV patients.
Results and Conclusions: We found clonal mutations (i.e. H538-K539delinsL and D544G) in 3 of 7 JAK2-V617F-negative PV patients, however, unlike JAK2-V617F, allele burden of JAK2 exon 12 mutation was low. Since allele-specific PCR is able to amplify only the limited region which contains known mutations with gain-of-function, we need to clarify the biological implications of unknown single nucleotide substitution of the JAK2 exon 12 with low clonal burden in erythrocytosis patients.
Key Words: Janus kinase 2 • polycythemia vera • mutation