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Title: Myeloid somatic mutation panel testing in myeloproliferative neoplasms.
Austin Authors: Ross, David M;Thomson, Candice;Hamad, Nada;Lane, Steven W;Manos, Kate ;Grigg, Andrew P ;Guo, Belinda;Erber, Wendy N;Scott, Ashleigh;Viiala, Nick;Chee, Lynette;Latimer, Maya;Tate, Courtney;Grove, Carolyn;Perkins, Andrew C;Blombery, Piers
Affiliation: Department of Haematology and Genetic Pathology, Flinders University and Medical Centre, Adelaide, SA, Australia
Haematology Department, Sir Charles Gairdner Hospital, Perth, WA, Australia
Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia
Clinical Haematology
Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia
Department of Haematology, Alfred Hospital, Monash University, Melbourne, Vic, Australia
Department of Clinical Haematology, Royal Melbourne Hospital, Peter MacCallum Cancer Centre, Department of Medicine, The University of Melbourne, Melbourne, Vic, Australia
Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA, Australia
Haematology Department, St Vincent's Hospital, Faculty of Medicine, University of New South Wales, Sydney, NSW, 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
School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia
Haematology Department, PathWest Laboratory Medicine, Perth, WA, Australia
Department of Haematology, Liverpool Hospital, University of New South Wales, Sydney, NSW, Australia
ACT Pathology and Canberra Hospital, Australian National University, Canberra, ACT, Australia
Haematology Department, Gold Coast University Hospital, University of Queensland, Southport, Qld, Australia
Issue Date: 2-Mar-2021
Date: 2021-03-02
Publication information: Pathology 2021; online first: 2 March
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.
DOI: 10.1016/j.pathol.2021.01.003
Journal: Pathology
PubMed URL: 33674147
Type: Journal Article
Subjects: Myeloproliferative neoplasms
Appears in Collections:Journal articles

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