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

Jerald Z. Gong; James R. Cook; Timothy C. Greiner; Cyrus Hedvat; Charles E. Hill; Megan S. Lim; Janina A. Longtine; Daniel Sabath; Y. Lynn Wang

doi:10.1016/j.jmoldx.2013.07.002

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

Jerald Z. Gong, James R. Cook, Timothy C. Greiner, Cyrus Hedvat, Charles E. Hill, Megan S. Lim, Janina A. Longtine, Daniel Sabath, Y. Lynn Wang

Research output: Contribution to journal › Article › peer-review

39 Scopus citations

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.

Original language	English
Pages (from-to)	733-744
Number of pages	12
Journal	Journal of Molecular Diagnostics
Volume	15
Issue number	6
DOIs	https://doi.org/10.1016/j.jmoldx.2013.07.002
State	Published - Nov 2013

Keywords

DNA Mutational Analysis
Early Detection of Cancer
Genetic Testing/standards
Hematologic Neoplasms/diagnosis
Humans
Janus Kinase 2/genetics
Molecular Diagnostic Techniques/standards
Mutation
Myeloproliferative Disorders/diagnosis
Receptors, Thrombopoietin/genetics
Reference Standards

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10.1016/j.jmoldx.2013.07.002

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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. (2013). Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: A report of the association for molecular pathology. Journal of Molecular Diagnostics, 15(6), 733-744. https://doi.org/10.1016/j.jmoldx.2013.07.002

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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.",

keywords = "DNA Mutational Analysis, Early Detection of Cancer, Genetic Testing/standards, Hematologic Neoplasms/diagnosis, Humans, Janus Kinase 2/genetics, Molecular Diagnostic Techniques/standards, Mutation, Myeloproliferative Disorders/diagnosis, Receptors, Thrombopoietin/genetics, Reference Standards",

author = "Gong, {Jerald Z.} and Cook, {James R.} and Greiner, {Timothy C.} and Cyrus Hedvat and Hill, {Charles E.} and Lim, {Megan S.} and Longtine, {Janina A.} and Daniel Sabath and Wang, {Y. Lynn}",

year = "2013",

month = nov,

doi = "10.1016/j.jmoldx.2013.07.002",

language = "English",

volume = "15",

pages = "733--744",

journal = "Journal of Molecular Diagnostics",

issn = "1525-1578",

publisher = "Elsevier B.V.",

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}

Gong, JZ, Cook, JR, Greiner, TC, Hedvat, C, Hill, CE, Lim, MS, Longtine, JA, Sabath, D & Wang, YL 2013, 'Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: A report of the association for molecular pathology', Journal of Molecular Diagnostics, vol. 15, no. 6, pp. 733-744. https://doi.org/10.1016/j.jmoldx.2013.07.002

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: A report of the association for molecular pathology. / Gong, Jerald Z.; Cook, James R.; Greiner, Timothy C. et al.
In: Journal of Molecular Diagnostics, Vol. 15, No. 6, 11.2013, p. 733-744.

Research output: Contribution to journal › Article › peer-review

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AU - Greiner, Timothy C.

AU - Hedvat, Cyrus

AU - Hill, Charles E.

AU - Lim, Megan S.

AU - Longtine, Janina A.

AU - Sabath, Daniel

AU - Wang, Y. Lynn

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ER -

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

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