Myeloid somatic mutation panel testing in myeloproliferative neoplasms

David M. Ross; Candice Thomson; Nada Hamad; Steven W. Lane; Kate Manos; Andrew P. Grigg; Belinda Guo; Wendy N. Erber; Ashleigh Scott; Nick Viiala; Lynette Chee; Maya Latimer; Courtney Tate; Carolyn Grove; Andrew C. Perkins; Piers Blombery

doi:10.1016/j.pathol.2021.01.003

Myeloid somatic mutation panel testing in myeloproliferative neoplasms

David M. Ross^*, Candice Thomson, Nada Hamad, Steven W. Lane, Kate Manos, Andrew P. Grigg, Belinda Guo, Wendy N. Erber, Ashleigh Scott, Nick Viiala, Lynette Chee, Maya Latimer, Courtney Tate, Carolyn Grove, Andrew C. Perkins, Piers Blombery

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

13 Citations (Scopus)

Abstract

Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.

Original language	English
Pages (from-to)	339-348
Number of pages	10
Journal	Pathology
Volume	53
Issue number	3
DOIs	https://doi.org/10.1016/j.pathol.2021.01.003
Publication status	Published - Apr 2021

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title = "Myeloid somatic mutation panel testing in myeloproliferative neoplasms",

abstract = "Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.",

keywords = "Myeloproliferative neoplasms, PCR, diagnosis, mutations, prognosis",

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year = "2021",

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doi = "10.1016/j.pathol.2021.01.003",

language = "English",

volume = "53",

pages = "339--348",

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T1 - Myeloid somatic mutation panel testing in myeloproliferative neoplasms

AU - Ross, David M.

AU - Thomson, Candice

AU - Hamad, Nada

AU - Lane, Steven W.

AU - Manos, Kate

AU - Grigg, Andrew P.

AU - Guo, Belinda

AU - Erber, Wendy N.

AU - Scott, Ashleigh

AU - Viiala, Nick

AU - Chee, Lynette

AU - Latimer, Maya

AU - Tate, Courtney

AU - Grove, Carolyn

AU - Perkins, Andrew C.

AU - Blombery, Piers

PY - 2021/4

Y1 - 2021/4

N2 - Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.

AB - Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.

KW - Myeloproliferative neoplasms

KW - PCR

KW - diagnosis

KW - mutations

KW - prognosis

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U2 - 10.1016/j.pathol.2021.01.003

DO - 10.1016/j.pathol.2021.01.003

M3 - Review article

SN - 0031-3025

VL - 53

SP - 339

EP - 348

JO - Pathology

JF - Pathology

IS - 3

ER -

Myeloid somatic mutation panel testing in myeloproliferative neoplasms

Abstract

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