JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia

Dong Wook Jekarl; Sang Bong Han; Myungshin Kim; Jihyang Lim; Eun-Jee Oh; Yonggoo Kim; Hee-Je Kim; Woo-Sung Min; Kyungja Han

doi:10.5045/kjh.2010.45.1.46

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Original Article

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Korean J Hematol 2010; 45(1):

Published online March 31, 2010

https://doi.org/10.5045/kjh.2010.45.1.46

JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia

Dong Wook Jekarl¹, Sang Bong Han¹, Myungshin Kim¹, Jihyang Lim¹, Eun-Jee Oh¹, Yonggoo Kim¹, Hee-Je Kim², Woo-Sung Min², and Kyungja Han^1*

Author Info. +

¹Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

²Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Correspondence to : Correspondence to Kyungja Han, M.D. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 505, Banpo-dong, Seocho-gu, Seoul 137-701, Korea. Tel: +82-2-2258-1644, Fax: +82-2-2258-1719, hankja@catholic.ac.kr

Received: February 26, 2010; Revised: March 8, 2010; Accepted: March 8, 2010

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

The JAK2 V617F mutation has been noted in the cases of polycythemia vera, essential thrombocythemia, and primary myelofibrosis patients. This mutation occurs less frequently in acute myeloid leukemia (AML) and other hematologic diseases, such as myelodysplastic syndrome (MDS); myelodysplatic syndrome/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U); and refractory anemia with ring sideroblasts with thrombocytosis (RARS-T).

Methods

Patients diagnosed with hematologic diseases other than MPN who visited Seoul St Mary's Hospital from January 2007 to February 2010 were selected. A total of 43 patients were enrolled in this study: 12 MDS, 9 MDS/MPN-U, 7 RARS-T, and 15 AML patients. The diseases were diagnosed according to the 2008 WHO classification criteria. Data obtained from JAK2 V617F mutation analysis and cytogenetic study as well as complete blood count and clinical data were analyzed.

Results

Of the 43 patients, 6 (13.9%) harbored the JAK2 V617F mutation. The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML. The platelet count was higher than 450×10⁹/L in 3 of the 6 patients (50%) harboring the JAK2 V617F mutation, and it was in the normal range in the remaining 3 patients. Among the 6 patients, 1 MDS and 1 MDS/MPN-U patients had the 46,XX,del(20)(q11.2) karyotype.

Conclusion

The JAK2 V617F mutation is associated with an increased platelet count in MDS, MDS/MPN-U, RARS-T, and AML patients. Cytogenetic abnormalities of del(20)(q11.2) occurred in 1/3 of patients with the JAK2 V617F mutation but further studies are required to confirm this association.

Keywords JAK2 V617F, MDS, MDS/MPN-U, RARS-T, AML

Article

Original Article

Korean J Hematol 2010; 45(1): 46-50

Published online March 31, 2010 https://doi.org/10.5045/kjh.2010.45.1.46

JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia

Dong Wook Jekarl¹, Sang Bong Han¹, Myungshin Kim¹, Jihyang Lim¹, Eun-Jee Oh¹, Yonggoo Kim¹, Hee-Je Kim², Woo-Sung Min², and Kyungja Han^1*

¹Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

²Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Correspondence to:Correspondence to Kyungja Han, M.D. Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 505, Banpo-dong, Seocho-gu, Seoul 137-701, Korea. Tel: +82-2-2258-1644, Fax: +82-2-2258-1719, hankja@catholic.ac.kr

Received: February 26, 2010; Revised: March 8, 2010; Accepted: March 8, 2010

Abstract

Background

Methods

Results

Conclusion

Keywords: JAK2 V617F, MDS, MDS/MPN-U, RARS-T, AML

Abstract

Fig 1.

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Figure 1.

JAK2 Exon14 (V617F) test performed by the melting curve analysis method. Analysis of positive control (purple) and positive V617F mutation in an RARS-T patient (green) with a melting curve at 75℃ (indicated with star shape) and another 5 controls with wild-type alleles (arrow).

Blood Research 2010; 45: 46-50https://doi.org/10.5045/kjh.2010.45.1.46

Table 1 . Clinical characteristics and JAK2 V617F mutation status of patients based on the diagnosis..

^a)All the continuous variables are presented as median (range)..

Abbreviations: MDS, myelodysplastic syndrome; MDS/MPN-U, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable; RARS-T, refractory anemia with ring sideroblasts with thrombocytosis; AML, acute myeloid leukemia; BM, bone marrow..

Table 2 . Clinical and laboratory data of JAK2 V617F-positive cases..

Abbreviations: AML, acute myeloid leukemia; APF, acute panmyelosis with fibrosis; MDS/MPN-U, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable; RAEB, refractory anemia with excess blasts; RARS-T, refractory anemia with ring sideroblasts with thrombocytosis; alloPBSCT, allogenous peripheral blood stem cell transplantation; uPBSCT, unrelated donor peripheral blood stem cell transplantation; FU loss, follow up loss; NA, not available..

Table 3 . Comparison of clinical characteristics and laboratory data of the JAK2 mutation group and the JAK2 wild-type group..

^a)All the continuous variables are presented as median (range).