The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia Chromosome-Negative Myeloproliferative Neoplasm

Sang Hyuk Park; Hyun-Sook Chi; Young-Uk Cho; Seongsoo Jang; Chan-Jeoung Park

doi:10.5045/br.2013.48.2.128

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Original Article

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Blood Res 2013; 48(2):

Published online June 25, 2013

https://doi.org/10.5045/br.2013.48.2.128

The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia Chromosome-Negative Myeloproliferative Neoplasm

Sang Hyuk Park, Hyun-Sook Chi^*, Young-Uk Cho, Seongsoo Jang, and Chan-Jeoung Park

Author Info. +

Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

Correspondence to : Correspondence to Hyun-Sook Chi, M.D., Ph.D. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, Korea. Tel: +82-2-3010-4502, Fax: +82-2-478-0884, hschi@amc.seoul.kr

Received: December 3, 2012; Revised: December 27, 2012; Accepted: May 17, 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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Abstract

Background

We aimed to evaluate the feasibility of using the allele burden of Janus kinase 2 (JAK2) V617F as a criterion for discriminating 3 subtypes of Philadelphia chromosome-negative myeloproliferative neoplasm (Ph^-MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).

Methods

We collected 70 peripheral blood (PB) and 81 bone marrow (BM) samples from patients diagnosed with Ph^-MPN. Real-time quantitative PCR (RQ-PCR) and Amplification Refractory Mutation System (ARMS) assays were performed for each sample. We compared the allele burden of JAK2 V617F for each subtype of Ph^-MPN and determined the concordance rates of the results between the 2 tests.

Results

The JAK2 V617F allele burden differed significantly among the 3 disease categories in both PB (P=0.045) and BM (P=0.011) samples. Subsequent subgroup analysis revealed that the median allele burden of JAK2 V617F for ET (21.71% for PB and 24.95% for BM) was significantly lower than that for PV (56.88% for PB, P=0.047; 72.66% for BM, P=0.003) and PMF (56.16% for PB, P=0.050; 59.04% for BM, P=0.049). Concordance rate between the RQ-PCR and ARMS data was 90.7%. Of the 14 discrepant cases, 12 were RQ-PCR(+)/ARMS(-) and 2 were RQ-PCR(-)/ARMS(+).

Conclusion

The allele burden of JAK2 V617F was significantly lower for ET than that for PV or PMF in both PB and BM samples. The JAK2 V617F allele burden is a diagnostic tool for differentiating PV or PMF from ET.

Keywords Allele, Discrimination, Janus Kinase 2, Mutation, Myeloproliferative disorders, Real-time polymerase chain reaction

Article

Original Article

Blood Res 2013; 48(2): 128-132

Published online June 25, 2013 https://doi.org/10.5045/br.2013.48.2.128

The allele burden of JAK2 V617F can aid in differential diagnosis of Philadelphia Chromosome-Negative Myeloproliferative Neoplasm

Sang Hyuk Park, Hyun-Sook Chi^*, Young-Uk Cho, Seongsoo Jang, and Chan-Jeoung Park

Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

Correspondence to: Correspondence to Hyun-Sook Chi, M.D., Ph.D. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, Korea. Tel: +82-2-3010-4502, Fax: +82-2-478-0884, hschi@amc.seoul.kr

Received: December 3, 2012; Revised: December 27, 2012; Accepted: May 17, 2013

Abstract

Background

Methods

Results

Conclusion

Keywords: Allele, Discrimination, Janus Kinase 2, Mutation, Myeloproliferative disorders, Real-time polymerase chain reaction

Abstract

Fig 1.

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Figure 1.

Comparison of the allele burden of the JAK2 V617F mutation among the subtypes of Philadelphia-negative myeloproliferative neoplasm. The median allele burden of JAK2 V617F for ET (21.71% for PB and 24.95% for BM) was significantly lower than that for PV (56.88% for PB, P=0.047; 72.66% for BM, P=0.003) and PMF (56.16% for PB, P=0.050; 59.04% for BM, P=0.049).

Blood Research 2013; 48: 128-132https://doi.org/10.5045/br.2013.48.2.128

Table 1 . Comparison of the test results of quantitative real-time PCR with those of allele-specific PCR for the detection of the JAK2 V617F mutation..

Abbreviations: RQ-PCR, quantitative real-time polymerase chain reaction; ARMS, amplification refractory mutation system..

Table 2 . Demographic and laboratory test results for the 151 patients diagnosed with Philadelphia-negative myeloproliferative neoplasm with respect to disease subtypes..

P values were obtained using the Chi-squared test^a) or the Kruskal-Wallis test^b)..

Abbreviations: PV, polycythemia vera; ET, essential thrombocythemia; PMF, primary myelofibrosis; WBC, white blood cell; ARMS, amplification refractory mutation system; RQ-PCR, real time quantitative polymerase chain reaction..

Table 3 . Comparison of JAK2 V617F allele burden between the disease subtypes of Philadelphia-negative myeloproliferative neoplasm..

P values were obtained from the comparison of the 3 disease subtypes (PV, ET, and PMF) by using the Kruskal-Wallis test^a). Subsequent P values were obtained from comparison between the 2 disease subtypes by using the Mann-Whitney U test^b)..

Abbreviations: PV, polycythemia vera; ET, essential thrombocythemia; PMF, primary myelofibrosis..