Article Text

Download PDFPDF
Incidence and impact of non-canonical JAK2 p.(Val617Phe) mutations in myeloproliferative neoplasm molecular diagnostics
  1. Danielle Patchell1,
  2. Clodagh Keohane2,
  3. Susan O’Shea3,
  4. Stephen E Langabeer1
  1. 1St James's Hospital, Dublin, Ireland
  2. 2Department of Haematology, Mercy University Hospital, Cork, Ireland
  3. 3Department of Haematology, Bon Secours Hospital Cork, Cork, Ireland
  1. Correspondence to Dr Stephen E Langabeer, St James's Hospital, Dublin, Ireland; slangabeer{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

The JAK2 exon 14, V617F mutation (c.1849G>T, p.(Val617Phe), NM_004972.4) is the most commonly acquired driver mutation of the Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) with detection of this variant an essential diagnostic criterion.1 2 Several techniques are available for the routine detection of the canonical JAK2 V617F mutations including Sanger sequencing, allele-specific PCR, high-resolution melt analysis and next-generation sequencing (NGS), each with its own methodological limits of detection, limits of quantitation and clinical applicability with an understanding of these attributes necessary for the clinical interpretation of results.3 In recent years, NGS has become increasingly employed in routine molecular diagnostic laboratories and while acknowledging a lesser sensitivity than targeted allele-specific real-time PCR, NGS has the advantage, if so required, of being able to detect non-canonical mutations in JAK2 exon 14 and within all coding JAK2 exons with the caveat that potential driver mutations require confirmation of pathogenicity.4

At a central laboratory for haematological malignancy molecular diagnostics, routine identification of the JAK2 V61F mutation transitioned from an agarose gel-based, allele-specific …

View Full Text


  • Handling editor Vikram Deshpande.

  • Contributors DP and SEL performed laboratory analysis. CK and SO provided patient care and clinical information. All authors contributed to manuscript writing and authorised submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.