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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 Korean Society of Hematology

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

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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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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

Copyright © The Korean Society of Hematology.

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

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

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

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 testa) or the Kruskal-Wallis testb)..

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 testa). Subsequent P values were obtained from comparison between the 2 disease subtypes by using the Mann-Whitney U testb)..

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