Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology

J Mol Diagn. 2013 Nov;15(6):733-44. doi: 10.1016/j.jmoldx.2013.07.002. Epub 2013 Aug 24.


Recurrent mutations in JAK2 and MPL genes are genetic hallmarks of BCR-ABL1-negative myeloproliferative neoplasms. Detection of JAK2 and MPL mutations has been incorporated into routine diagnostic algorithms for these diseases. This Special Article summarizes results from a nationwide laboratory survey of JAK2 and MPL mutation analysis. Based on the current practice pattern and the literature, this Special Article provides recommendations and guidelines for laboratory practice for detection of mutations in the JAK2 and MPL genes, including clinical manifestations for prompting the mutation analysis, current and recommended methodologies for testing the mutations, and standardization for reporting the test results. This Special Article also points to future directions for genomic testing in BCR-ABL1-negative myeloproliferative neoplasms.

Publication types

  • Practice Guideline
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Early Detection of Cancer
  • Genetic Testing / standards
  • Hematologic Neoplasms / diagnosis*
  • Hematologic Neoplasms / genetics
  • Humans
  • Janus Kinase 2 / genetics*
  • Molecular Diagnostic Techniques / standards
  • Mutation
  • Myeloproliferative Disorders / diagnosis*
  • Myeloproliferative Disorders / genetics
  • Receptors, Thrombopoietin / genetics*
  • Reference Standards


  • Receptors, Thrombopoietin
  • MPL protein, human
  • JAK2 protein, human
  • Janus Kinase 2