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

Pathology. 2021 Apr;53(3):339-348. doi: 10.1016/j.pathol.2021.01.003. Epub 2021 Mar 3.

Authors

David M Ross¹, Candice Thomson², Nada Hamad³, Steven W Lane⁴, Kate Manos⁵, Andrew P Grigg⁵, Belinda Guo⁶, Wendy N Erber⁷, Ashleigh Scott⁸, Nick Viiala⁹, Lynette Chee¹⁰, Maya Latimer¹¹, Courtney Tate¹², Carolyn Grove¹³, Andrew C Perkins¹⁴, Piers Blombery¹⁰

Affiliations

¹ 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.
² 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.
³ 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.
⁴ 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.
⁵ Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Austin Health, Heidelberg, Vic, Australia.
⁶ Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia.
⁷ 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.
⁸ 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.
⁹ 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.
¹⁰ 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.
¹¹ Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; ACT Pathology and Canberra Hospital, Australian National University, Canberra, ACT, Australia.
¹² Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Haematology Department, Gold Coast University Hospital, University of Queensland, Southport, Qld, Australia.
¹³ 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.
¹⁴ Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology, Alfred Hospital, Monash University, Melbourne, Vic, Australia.

PMID: 33674147
DOI: 10.1016/j.pathol.2021.01.003

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.

Publication types

Review

MeSH terms

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

Supplementary concepts

Pdgfra-Associated Chronic Eosinophilic Leukemia