Myeloid somatic mutation panel testing in myeloproliferative neoplasms.

High-Throughput Nucleotide Sequencing Humans Hypereosinophilic Syndrome / diagnosis Leukemia / diagnosis Leukemia, Neutrophilic, Chronic / diagnosis Mastocytosis, Systemic / diagnosis Mutation Myeloproliferative Disorders / diagnosis Polycythemia Vera / diagnosis Primary Myelofibrosis / diagnosis Prognosis Sequence Analysis, DNA Thrombocythemia, Essential / diagnosis
Myeloproliferative neoplasms PCR diagnosis mutations prognosis

Journal

Pathology
ISSN: 1465-3931
Titre abrégé: Pathology
Pays: England
ID NLM: 0175411

Informations de publication

Date de publication:
Apr 2021
Historique:
received: 15 09 2020
revised: 14 01 2021
accepted: 17 01 2021
pubmed: 7 3 2021
medline: 11 11 2021
entrez: 6 3 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.pathol.2021.01.003 PMID: 33674147
pubmed: 33674147
pii: S0031-3025(21)00048-9
doi: 10.1016/j.pathol.2021.01.003
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

339-348

Informations de copyright

Crown Copyright © 2021. Published by Elsevier B.V. All rights reserved.

Auteurs

David M Ross (DM)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA, Australia; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia; Department of Haematology and Genetic Pathology, Flinders University and Medical Centre, Adelaide, SA, Australia. Electronic address: david.ross@sa.gov.au.

Candice Thomson (C)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA, Australia.

Nada Hamad (N)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Haematology Department, St Vincent's Hospital, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.

Steven W Lane (SW)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Brisbane and Women's Hospital, Brisbane, Qld, Australia; QIMR Berghofer Medical Research Institute, University of Queensland, Brisbane, Qld, Australia.

Kate Manos (K)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Austin Health, Heidelberg, Vic, Australia.

Andrew P Grigg (AP)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Austin Health, Heidelberg, Vic, Australia.

Belinda Guo (B)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia.

Wendy N Erber (WN)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia; Haematology Department, PathWest Laboratory Medicine, Perth, WA, Australia.

Ashleigh Scott (A)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Brisbane and Women's Hospital, Brisbane, Qld, Australia.

Nick Viiala (N)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology, Liverpool Hospital, University of New South Wales, Sydney, NSW, Australia.

Lynette Chee (L)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Royal Melbourne Hospital, Peter MacCallum Cancer Centre, Department of Medicine, The University of Melbourne, Melbourne, Vic, Australia.

Maya Latimer (M)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; ACT Pathology and Canberra Hospital, Australian National University, Canberra, ACT, Australia.

Courtney Tate (C)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Haematology Department, Gold Coast University Hospital, University of Queensland, Southport, Qld, Australia.

Carolyn Grove (C)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia; Haematology Department, PathWest Laboratory Medicine, Perth, WA, Australia; Haematology Department, Sir Charles Gairdner Hospital, Perth, WA, Australia.

Andrew C Perkins (AC)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology, Alfred Hospital, Monash University, Melbourne, Vic, Australia.

Piers Blombery (P)

Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Royal Melbourne Hospital, Peter MacCallum Cancer Centre, Department of Medicine, The University of Melbourne, Melbourne, Vic, Australia.

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Classifications MeSH

questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Troubles leucocytaires › Éosinophilie › Syndrome hyperéosinophilique › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Leucémies › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Leucémie chronique à neutrophiles › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Maladies du système immunitaire › Troubles de l'activation mastocytaire › Mastocytose › Mastocytose généralisée › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Tumeurs hématologiques › Tumeurs de la moelle osseuse › Polyglobulie primitive essentielle › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Maladies de la moelle osseuse › Syndromes myéloprolifératifs › Myélofibrose primitive › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Diagnostic › Pronostic › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Myeloid somatic mutation panel testing in...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Troubles hémorragiques › Thrombocytémie essentielle › Myeloid somatic mutation panel testing in...