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Role of JAK2 V617F mutation and aberrant expression of microRNA-143 in myeloproliferative neoplasms

  • Marco Benati EMAIL logo , Martina Montagnana , Elisa Danese , Giovanna De Matteis , Dino Veneri , Elisa Paviati and Gian Cesare Guidi
Published/Copyright: December 20, 2014
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 53 Issue 7

Abstract

Background: Myeloproliferative neoplasms (MPNs) are clonal myeloid disorders characterized by the overproduction of mature blood cells. The pathogenetic hallmark of MPNs is the dysregulation of JAK-STAT signaling, usually associated with the JAK2 V617F mutation. Multiple additional genetic and epigenetic alterations that constitutively activate the JAK-STAT signaling pathway have been described, including the modulation of the microRNAs (miRs) expression levels. The aims of our study were to investigate JAK2 V617F mutation allele burden and miR-143 expression levels in MPNs patients and to investigate the correlation between these genetic signatures and hematological parameters.

Methods: In total 78 patients with a clinical diagnosis of polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IM), made according to the WHO 2008 criteria, were included in the study. Twenty healthy subjects were checked as controls. Quantification of JAK2 V617F mutation and miR-143 expression levels were determined by real-time quantitative polymerase chain reaction.

Results: The miR-143 expression in MPNs patients was 2.97-fold higher than in controls. JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients. Patients who had V617F allele burden >50% displayed a higher miRNA-143 expression level than patients with allele burden <50%. In MPNs patients, a statistically significant positive correlation was observed between JAK2 V617F mutation allele burden and hemoglobin and hematocrit values and between miR-143 expression levels and platelet count.

Conclusions: Our findings of aberrant miR-143 expression support the concept that factors other than JAK2 V617F mutation may contribute to the pathogenesis and some clinical signs of MPNs.

Keywords: JAK2 V617F; miR-143; myeloproliferative neoplasms
Corresponding author: Marco Benati, Department of Life and Reproduction Sciences, Clinical Biochemistry Section, University of Verona, Hospital “Policlinico G.B. Rossi”, P.le LA Scuro 10, 37134 Verona, Italy, Phone: +39 45 8124418, Fax: +39 45 8027484, E-mail:
aMartina Montagnana and Elisa Danese contributed equally to this work.

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Received: 2014-8-26
Accepted: 2014-11-20
Published Online: 2014-12-20
Published in Print: 2015-6-1

©2015 by De Gruyter

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https://doi.org/10.1515/cclm-2014-0858
Keywords for this article
JAK2 V617F; miR-143; myeloproliferative neoplasms

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Personalized medicine: moving from simple theory to daily practice
  4. Evaluating and using innovative technologies: a lesson from Theranos?
  5. Review
  6. Emerging biomarkers in the detection and prognosis of prostate cancer
  7. Mini Review
  8. Could molecular assessment of calcium metabolism be a useful tool to early screen patients at risk for pre-eclampsia complicated pregnancy? Proposal and rationale
  9. Opinion Papers
  10. Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe
  11. Theranos phenomenon: promises and fallacies
  12. Clinical laboratories: production industry or medical services?
  13. Genetics and Molecular Diagnostics
  14. Role of JAK2 V617F mutation and aberrant expression of microRNA-143 in myeloproliferative neoplasms
  15. Direct identification of Gram-positive bacteria and resistance determinants from blood cultures using a microarray-based nucleic acid assay: in-depth analysis of microarray data for undetermined results
  16. General Clinical Chemistry and Laboratory Medicine
  17. Comparison between bottom-up and top-down approaches in the estimation of measurement uncertainty
  18. Role of vitamin D and sFlt-1/PlGF ratio in the development of early- and late-onset preeclampsia
  19. Adenosine deaminase, dipeptidyl peptidase-IV activities and lipid peroxidation are increased in the saliva of obese young adult
  20. PON-1 and ferroxidase activities in older patients with mild cognitive impairment, late onset Alzheimer’s disease or vascular dementia
  21. Comparison of five automated hematology analyzers in a university hospital setting: Abbott Cell-Dyn Sapphire, Beckman Coulter DxH 800, Siemens Advia 2120i, Sysmex XE-5000, and Sysmex XN-2000
  22. Dacryocytes are a common morphologic feature of autoimmune and microangiopathic haemolytic anaemia
  23. Performance characteristics of a new automated method for measurement of anti-cyclic citrullinated peptide
  24. The clinical performance of a chemiluminescent immunoassay in detecting anti-cardiolipin and anti-β2 glycoprotein I antibodies. A comparison with a homemade ELISA method
  25. Reference Values and Biological Variations
  26. Reference interval for immature platelet fraction on Sysmex XN hematology analyzer: a comparison study with Sysmex XE-2100
  27. Development of the first urinary reproductive hormone ranges referenced to independently determined ovulation day
  28. Cancer Diagnostics
  29. Urinary miR-183 and miR-205 do not surpass PCA3 in urine as predictive markers for prostate biopsy outcome despite their highly dysregulated expression in prostate cancer tissue
  30. Cardiovascular Diseases
  31. Elevated circulating levels of lipoprotein-associated phospholipase A2 in obese children
  32. Letters to the Editors
  33. Reporting of hemolysis index (HI) with laboratory results should be obligatory in newborns and infants
  34. Unmeasurably high chloride: a surrogate marker of thiocyanate poisoning identification
  35. Association between red cell distribution width and myocardial infarction in rheumatoid arthritis
  36. Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency
  37. Rapid diagnosis of cryptococcal meningitis by Türk staining
  38. A high selectivity and sensitivity analytical method for the analysis of 8-hydroxy-2′-deoxyguanosine in the urine of Alzheimer’s disease patients
  39. S100B protein concentration measurement according to two different immunoassays
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