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Updated: Jul 6, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
Published on: December 7, 2014
Fully automated and super-rapid system for the detection of JAK2V617F mutation
Ruriko Tanaka1, Junya Kuroda, William Stevenson
1Department of Transfusion Medicine and Cell Therapy, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
Abstract:
JAK2V617F is a common mutation in chronic myeloproliferative diseases (CMPDs). We have developed a system utilizing JAK2V617F-specific guanine quenching probe (QP-system) to detect JAK2V617F. With QP-system, results can be obtained from 100 microl of blood within 90 min. We compared QP-system with direct sequencing using 42 CMPD patients' specimens. JAK2V617F was detected in 25 specimens by QP-system, while direct sequencing failed to detect JAK2V617F in 7 of those 25. The presence of JAK2V617F mutation in these 7 specimens was confirmed by allele-specific PCR. These findings indicate that QP-system is more sensitive and useful than direct sequencing for diagnoses of CMPDs.
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