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

被引：33

作者：

Gong, Jerald Z. ^{[1
,2
]}

Cook, James R. ^{[1
,3
]}

Greiner, Timothy C. ^{[1
,4
]}

Hedvat, Cyrus ^{[1
,5
]}

Hill, Charles E. ^{[1
,6
]}

Lim, Megan S. ^{[1
,7
]}

Longtine, Janina A. ^{[1
,8
]}

Sabath, Daniel ^{[1
,9
]}

Wang, Y. Lynn ^{[1
,10
]}

机构：

[1] Assoc Mol Pathol, Clin Practice Comm, Mutat Working Grp JAK2, Bethesda, MD USA

[2] Thomas Jefferson Univ, Dept Pathol Anat & Cell Biol, Philadelphia, PA 19107 USA

[3] Cleveland Clin Fdn, Dept Clin Pathol, Cleveland, OH 44195 USA

[4] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, Omaha, NE USA

[5] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10021 USA

[6] Emory Univ, Dept Pathol & Lab Med, Atlanta, GA 30322 USA

[7] Univ Michigan, Dept Pathol Hematopathol, Ann Arbor, MI 48109 USA

[8] Icahn Sch Med Mt Sinai, Dept Pathol, New York, NY USA

[9] Univ Washington, Dept Lab Med, Seattle, WA 98195 USA

[10] Weill Cornell Med Coll, Dept Pathol & Lab Med, New York, NY USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2013年 / 15卷 / 06期

关键词：

EXON; 12; MUTATIONS; POLYCYTHEMIA-VERA PATIENTS; TYROSINE KINASE JAK2; CHAIN-REACTION ASSAY; V617F ALLELE BURDEN; ESSENTIAL THROMBOCYTHEMIA; JAK2-V617F MUTATION; JAK2V617F MUTATION; PERIPHERAL-BLOOD; ISOLATED ERYTHROCYTOSIS;

D O I：

10.1016/j.jmoldx.2013.07.002

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：733 / 744

页数：12

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