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JAK2-tree: a simple CBC-based decision rule to guide appropriate JAK2 V617F mutation testing
  1. Etienne Mahe1,
  2. Kasper Mønsted Pedersen2,
  3. Yunus Çolak2,
  4. Stig Egil Bojesen2,
  5. Tarah Lynch3,
  6. Gary Sinclair4,
  7. Faisal Khan5,
  8. Meer-Taher Shabani-Rad6
  1. 1 Division of Haematology, Alberta Public Laboratories, South Zone & Department of Pathology & Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada
  2. 2 Department of Clinical Biochemistry and the Copenhagen General Population Study, Copenhagen University Hospital, Herlev and Gentofte Hospital, Herlev, Denmark
  3. 3 Department of Pathology & Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada
  4. 4 Departments of Pathology & Laboratory Medicine and Biochemistry & Molecular Biology, University of Calgary, Calgary, Alberta, Canada
  5. 5 Departments of Paediatrics & Pathology & Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada
  6. 6 Division of Haematology, Calgary Lab Services & Department of Pathology & Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada
  1. Correspondence to Dr Etienne Mahe, Division of Haematology, Alberta Public Laboratories, South Sector & Department of Pathology & Laboratory Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada; etienne.mahe{at}medportal.ca

Abstract

Aims The JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques. Given the ease of JAK2 V617F testing, this test may be improperly requested for the purposes of patient ‘screening’ and to optimise laboratory resource utilisation, it behooves clinicians and laboratorians to perform JAK2 V617F testing only when most appropriate.

Methods To assist with the screening of patients being considered for JAK2 V617F testing, we developed a clinical decision rule, “JAK2-tree”, which can be easily applied to basic CBC parameters (haemoglobin, platelet and white blood cell counts).

Results We tested JAK2-tree on two independent datasets, one an unselected population-based sample (the Copenhagen General Population Study) and the other an historical clinical laboratory referral set, with sensitivities for JAK2 V617F detection of 91% and 94%, respectively. As applied to the historical laboratory referral dataset, moreover, the JAK2-tree algorithm would have reduced JAK2 V617F testing volume over the period of evaluation by 15%.

Conclusions Our work supports a simple decision-tree-based screening approach to optimize the selection of patients most appropriate for JAK2 V617F testing.

  • myeloproliferative disease
  • clinical audit
  • laboratory tests
  • molecular pathology
  • laboratory management

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Footnotes

  • Handling editor Prof Mary Frances McMullin.

  • Contributors This project was conceived by MTSR, FK, GS and EM, with CLS data procurement facilitated by TL. The Copenhagen Population Study was led by KMP, YÇ and SEB. Current data analysis was facilitated by KMP. The manuscript was largely written by EM with the assistance of KMP. All authors reviewed and approved of the manuscript.

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval The Copenhagen General Population Study was approved by the Herlev and Gentofte Hospital and by a Danish ethical committee (approval number: H-KF-01-144/01).

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

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