Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: A report of the association for molecular pathology

Jerald Z. Gong, James R. Cook, Timothy C. Greiner, Cyrus Hedvat, Charles E. Hill, Megan S. Lim, Janina A. Longtine, Daniel Sabath, Y. Lynn Wang

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)733-744
Number of pages12
JournalJournal of Molecular Diagnostics
Volume15
Issue number6
DOIs
StatePublished - Nov 2013

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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