Is low positive JAK2 V617F mutation test result clinically significant? Multi-institutional study

Xiaojun Wu, Joong Won Lee, Deniz Peker, Silvia G. Spitzer, Jordan Laser, Vishnu V.B. Reddy, Shuko Harada

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Objectives: Acquired somatic mutation Janus kinase 2 (JAK2) V617F is associated with various myeloproliferative neoplasms (MPN). Allele-specific real-time polymerase chain reaction has been widely adopted to detect mutation; however, the utility of low positive results is not well understood. The aim of this study is to investigate the clinical significance of low positivity of JAK2 V617F. Materials and Methods: Retrospective analysis was performed for JAK2 V617F mutation tests performed using JAK2 MutaQuant kit (Ipsogen) in molecular laboratories at 2 major academic medical centers between 2010 and 2012. Cases with low positive JAK2 V617F, defined as 0.2% to 5% mutant allele, were documented. Chart review was performed for the clinical correlation. Results: A total of 1697 JAK2 V617F tests was performed. Forty-five cases (2.65%) yielded a low JAK2 V617F positivity (average 1.45%), the majority of which (n=26, 62%) had <1%. Eight cases had a history of MPN. The remaining cases were related to reactive conditions without a clonal disease. Our data indicate that a low positivity of JAK2 V617F can be seen in MPN as well as reactive conditions. Conclusions: An interpretation of JAK2 V617F status should not be performed simply following some arbitrary cutoff. Any low positivity of JAK2 V617F should be reported and a correlation with clinical information is warranted for proper interpretation.

Original languageEnglish (US)
Pages (from-to)589-594
Number of pages6
JournalApplied Immunohistochemistry and Molecular Morphology
Issue number8
StatePublished - Sep 2016
Externally publishedYes


  • Allele-specific polymerase chain reaction
  • JAK2
  • Low positivity
  • Myeloproliferative neoplasms (MPN)
  • V617F

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Medical Laboratory Technology


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