Impact of JAK2 V617F Mutation on Hemogram Variation in Patients with Non-Reactive Elevated Platelet Counts

Zhou, Juan; Ye, Yuanxin; Zeng, Shugen; Zhou, Yi; Mao, Zhigang; Song, Xingbo; Ying, Binwu; Lu, Xiaojun; Jiang, Hong; Wang, Lanlan
February 2013
PLoS ONE;Feb2013, Vol. 8 Issue 2, p1
Academic Journal
Background: Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation. Complete blood cell count (CBC) is essential in diagnosis of MPDs, however, the impact of JAK2 V617F mutation on the patients’ hemogram variation remains not clear. Methods: JAK2 V617F mutation was detected by allele specific real-time quantitative fluorescence PCR (AS-qPCR). Results: Of the 402 non-reactive platelet elevating patients, JAK2 V617F mutation was detected in 222 (55.2%) patients. RBC counts, WBC counts, platelet-large contrast ratio (P-LCR), platelet distribution width (PDW) and mean platelet volume (MPV) were much higher in JAK2 V617F mutated patients, except platelet counts. In addition, when the patients were classified into subgroups by blood cell counts, it was found that JAK2 V617F mutation rate increased progressively with the increase of RBC counts and WBC counts, other than platelet counts. Furthermore, trilineage hyperplasia group showed highest JAK2 V617F mutation rate (93.26%), followed by the bilineage hyperplasia groups. Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25–P75): 45.02%(35.12%–54.22%)] than in essential thrombocythemia (ET) patients [median(P25–P75): 28.23%(17.77%–41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = −0.051, p = 0.452). Further analysis revealed that in ET patients, JAK2 V617F mutant allele burden correlated with WBC counts and platelet counts positively, other than RBC counts, while in PV patients, it correlated with WBC counts and RBC counts positively, but not platelet counts. Conclusions: JAK2 V617F mutation occurs frequently in patients with non-reactive elevated platelet counts. The presence of JAK2 V617F mutation has great impact on hemogram variation, including RBC counts, WBC counts, platelet parameters and lineage hyperplasia, but not on platelet counts. Besides, JAK2 V617F mutant allele burden affects the blood cell proliferation pattern.


Related Articles

  • JAK2 V617F mutation in Iranian patients with myeloproliferative neoplasms: clinical and laboratory findings. POOPAK, Behzad; HAGH, Majid FARSHDOUSTI; SAKI, Najmaldin; ELAHI, Fazel; REZVANI, Hamid; KHOSRAVIPOUR, Gelareh; JAHANGIRPOUR, Mohammad Ali; BOLOURI, Shirin; GOLKAR, Tolou; FALAH, Parviz // Turkish Journal of Medical Sciences;Jun2013, Vol. 43 Issue 3, p347 

    Aim: The JAK2 V617F mutation has been described as a frequent genetic event among a majority of patients with polycythemia vera, essential thrombocythemia, and myelofibrosis. In this research, we evaluated the prevalence of the JAK2 mutation and its clinical and laboratory correlation in...

  • JAK2V617F Mutation in Patients with Portal Vein Thrombosis. Yusuf Bayraktar; Ozgur Harmanci; Yahya Büyükasik; Ali Shorbagi; Aysegul Sungur; Cemaliye Boylu; Aytemiz Gürgey; Ferhun Balkanci // Digestive Diseases & Sciences;Oct2008, Vol. 53 Issue 10, p2778 

    Abstract  In a retrospective cohort, we investigated the presence of the JAK2V617F mutation in chronic non-cirrhotic portal vein thrombosis (PVT) patients, irrespective of the presence or absence of myeloproliferative diseases (MPDs). We identified 25 patients in whom thrombophilia workup...

  • Interferon-Alpha in the Treatment of Philadelphia-Negative Chronic Myeloproliferative Neoplasms. Status and Perspectives. Hasselbalch, Hans Carl; Larsen, Thomas Stauffer; Riley, Caroline Hasselbalch; Jensen, Morten Krogh; Kiladjian, Jean-Jacques // Current Drug Targets;Mar2011, Vol. 12 Issue 3, p392 

    No abstract available.

  • Detection of the JAK2V617F Mutation in Myeloproliferative Disorders by Melting Curve Analysis Using the LightCycler System. Olsen, Randall J.; Zhouwen Tang; Farkas, Daniel H.; Bernard, David W.; Youli Zu; Chung-Che Chang // Archives of Pathology & Laboratory Medicine;Jul2006, Vol. 130 Issue 7, p997 

    Context.—A specific mutation, JAK2V617F, was recently recognized as having diagnostic value for myeloproliferative disorders. No practical assay is currently available for routine use in a clinical laboratory. Objective.—We report the development of a real-time polymerase chain...

  • A quantitative assay for JAK2V617F mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. Vannucchi, A. M.; Pancrazzi, A.; Bogani, C.; Antonioli, E.; Guglielmelli, P. // Leukemia (08876924);Jun2006, Vol. 20 Issue 6, p1055 

    A point mutation in the Janus tyrosine kinase 2 (JAK2) gene has been described in patients with chronic myeloproliferative disorders (MPD), but the clinical significance of JAK2V617F, which may be harbored in either the heterozygote or homozyote status, is still largely undefined. There are...

  • JAK2V617F MUTATIONS IN MYELOID MALIGNANCIES: SINGLE CENTER EXPERIENCE. Panovska-Stavridis, I.; Cevreska, L.; Ivanovski, M.; Stojanovik, A.; Lozance, M.; Matevska, N.; Dimovski, A.; Serafimoski, V. // Contributions of Macedonian Academy of Sciences & Arts;2008, Vol. 29 Issue 2, p257 

    Recently, V617F mutation in JAK2 tyrosine kinase gene was established as a marker of myeloproliferation, useful for proving clonality and securing diagnosis in a considerable proportion of the myeloproliferative neoplasms (MPN) The discovery presents a major breakthrough in the understanding of...

  • Detection of MPLW515L/K Mutations and Determination of Allele Frequencies with a Single-Tube PCR Assay. Takei, Hiraku; Morishita, Soji; Araki, Marito; Edahiro, Yoko; Sunami, Yoshitaka; Hironaka, Yumi; Noda, Naohiro; Sekiguchi, Yuji; Tsuneda, Satoshi; Ohsaka, Akimichi; Komatsu, Norio // PLoS ONE;Aug2014, Vol. 9 Issue 8, p1 

    A gain-of-function mutation in the myeloproliferative leukemia virus (MPL) gene, which encodes the thrombopoietin receptor, has been identified in patients with essential thrombocythemia and primary myelofibrosis, subgroups of classic myeloproliferative neoplasms (MPNs). The presence of MPL gene...

  • A Simple, Rapid, and Sensitive Method for the Detection of the JAK2 V617F Mutation. Angela Tan // American Journal of Clinical Pathology;Jun2007, Vol. 127 Issue 6, p977 

    The point mutation 1849 (G⩽T) V617F in the JAK2 gene occurs at high frequency in several chronic myeloproliferative diseases. Although a number of V617F mutation detection methods have been described, few are readily implemented in a diagnostic setting. We developed a simple and...

  • Rapid and Sensitive Detection of Calreticulin Type 1 and 2 Mutations by Real-Time Quantitative PCR. Zinke, Michael; Nageswaran, Vanasa; Reinhardt, Richard; Burmeister, Thomas // Molecular Diagnosis & Therapy;Oct2015, Vol. 19 Issue 5, p329 

    Background: The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin ( CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics