Prevalence of JAK2 V617F mutation in BCR::ABL negative classical myeloproliferative neoplasm along with a comparison of two mutant allele burden detection techniques

Authors

  • Shivani Kaushal Research Associate, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Khaliqur Rahman Additional Professor, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Akhilesh Sharma Technical Officer, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Ashish Mishra Technical Officer, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Kusum Gupta Senior Resident, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Manish K Singh Associate Professor, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Dinesh Chandra Associate Professor, Dept of Hematology, SGPGIMS, Lucknow, India Author
  • Ruchi Gupta Professor, Deptt of Hematology, SGPGIMS, Lucknow, India Author

DOI:

https://doi.org/10.21276/bb6g4y37

Keywords:

BCR::ABL1 negative classic MPN, PV, ET, PMF, JAK2 V617F mutation, ARMS-PCR

Abstract

Background: JAK2V617F mutation is the main driver mutation identified in BCR::ABL1 negative classical myeloproliferative neoplasm (MPNs), which includes Essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF). The aim of this study was to evaluate the prevalence of JAK2V617F mutation in these MPNs and to compare the measurement of mutant allele burden using commercial q-PCR kit and ARMS-PCR followed by fragment analysis. Methods: JAK2V617F mutation status using ARMS PCR was analysed for all consecutive cases of BCR::ABL1 negative MPNs over a period of 6.5 years. Eighteen randomly selected JAK2V617F mutated samples, across all the three disease groups, were taken for JAK2V617F quantitation using Ipsogen JAK2 RGQ-PCR Kit and ARMS-PCR followed by fragment analysis.  Prevalence of mutation, allele burden among different disease groups and the two detection methods were compared. Results: Out of 378 cases studied, JAK2V61F mutation was noted in 113/124 (91.1%) cases of PV, 92/133 (69.2%) cases of PMF, and 74/121 (61.1%) cases of ET. The median allele burden in ET, PV and PMF were 37.8%, 77.3% and 88.9%, respectively. There was a good concordance rate between the two methods of JAK2V617F quantitation (r = 0.851). The cost per test with ARMS-PCR followed by fragment analysis was lower as compared RGQ PCR (INR 2400 vs INR 3600). Conclusion: JAK2V617F mutation is seen in majority of BCR::ABL1 negative classic MPNs. In-house validated method for quantitation using ARMS-PCR followed by fragment analysis is a reliable and cheaper alternative

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Published

31.03.2024

Issue

Section

ORIGINAL ARTICLES ~ Pathology

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