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


Authors: Gong, J. Z.; Cook, J. R.; Greiner, T. C.; Hedvat, C.; Hill, C. E.; Lim, M. S.; Longtine, J. A.; Sabath, D.; Wang, Y. L.
Article Title: Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: A report of the association for molecular pathology
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. Copyright © 2013 American Society for Investigative Pathology.
Keywords: gene mutation; gene; practice guideline; mutational analysis; gene mapping; bcr abl protein; myeloproliferative neoplasm; molecular pathology; mpl gene; janus kinase 2 gene
Journal Title: Journal of Molecular Diagnostics
Volume: 15
Issue: 6
ISSN: 1525-1578
Publisher: Elsevier Science, Inc.  
Date Published: 2013-11-01
Start Page: 733
End Page: 744
Language: English
DOI: 10.1016/j.jmoldx.2013.07.002
PROVIDER: scopus
PUBMED: 23978506
DOI/URL:
Notes: --- - "Export Date: 2 December 2013" - "CODEN: JMDIF" - "Source: Scopus"
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MSK Authors
  1. Cyrus Hedvat
    123 Hedvat