domingo, 1 de septiembre de 2013

Laboratory Practice Guidelines for Detecting and... [J Mol Diagn. 2013] - PubMed - NCBI

2013 Aug 23. pii: S1525-1578(13)00131-1. doi: 10.1016/j.jmoldx.2013.07.002. [Epub ahead of print]

Laboratory Practice Guidelines for Detecting and Reporting JAK2 and MPL Mutations in Myeloproliferative Neoplasms: A Report of the Association for Molecular Pathology.

Gong JZ, Cook JR, Greiner TC, Hedvat C, Hill CE, Lim MS, Longtine JA, Sabath D, Wang YL.

Source

JAK2 Mutation Working Group, Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: Jerald.gong@jefferson.edu.

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 and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.