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.
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.
JAK2 和 MPL 基因的反复突变是 BCR-ABL1 阴性骨髓增殖性肿瘤的遗传标志。JAK2 和 MPL 突变的检测已被纳入这些疾病的常规诊断算法。本文总结了一项全国性的 JAK2 和 MPL 突变分析实验室调查结果。基于当前的实践模式和文献，本文为检测 JAK2 和 MPL 基因突变的实验室实践提供了建议和指南，包括提示突变分析的临床表现、当前和推荐的检测方法以及报告检测结果的标准化。本文还指出了 BCR-ABL1 阴性骨髓增殖性肿瘤中基因组检测的未来方向。
