Evaluation of the correlation between JAK2V617F allele burden by Quenching Probe-Tm method and allele-specific quantitative PCR method

• Published in: Rinshō ketsueki Vol. 63; no. 1; p. 1
• Main Authors: Yamada, Seiko, Kondo, Toshinori, Uchida, Keiichi, Hirose, Tadashi, Takeuchi, Asako, Shimizu-Koresawa, Risa, Matsuhashi, Yoshiko, Kondo, Eisei, Tohyama, Kaoru, Wada, Hideho
• Format: Journal Article
• Language: Japanese
• Published: Japan 2022
• Subjects: Alleles; Humans; Janus Kinase 2 - genetics; Mutation; Myeloproliferative Disorders - diagnosis; Myeloproliferative Disorders - genetics; Polycythemia Vera - genetics; Real-Time Polymerase Chain Reaction; Allele burden; JAK2V617F; Myeloproliferative neoplasms
• ISSN: 0485-1439
• DOI: 10.11406/rinketsu.63.1

The JAK2V617F mutation is a driver mutation of myeloproliferative neoplasms (MPNs). V617F allele burden is considered a risk factor for complications associated with MPNs and is a predictor of prognosis. In Japan, V617F allele burden has been measured in laboratory settings using the i-densy
IS-5320 genetic analyzer with the quenching probe-Tm (QP-Tm) method. However, since 2020, allele-specific quantitative PCR (AS-qPCR) is being performed in clinical settings for measuring V617F allele burden. To investigate the clinical usefulness of the QP-Tm method in patients with MPNs, we evaluated the V617F allele burden measured by both the methods. A good correlation was observed between the V617F allele burden determined using QP-Tm and that determined using AS-qPCR (P<0.001, rs=0.952). The median mutant allele burden, as determined using the QP-Tm method, was significantly higher in patients with polycythemia vera than in those with essential thrombocythemia. The results of this study suggested that the QP-Tm method will continue to be useful clinical ancillary test for measuring V617F allele burden.