Laboratory Practice Guidelines for Detecting and Reporting JAK2 and MPL Mutations in Myeloproliferative Neoplasms
Year: 2013
Type: article
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.
Source: Journal of Molecular Diagnostics
Institutions: Thomas Jefferson University, Association for Molecular Pathology, Cleveland Clinic, University of Nebraska Medical Center, Memorial Sloan Kettering Cancer Center, Emory University, University of Michigan, Icahn School of Medicine at Mount Sinai, University of Washington, Weill Cornell Medicine
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,000
OpenAlex ID: W18338672