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Myeloid somatic mutation panel testing in myeloproliferative neoplasms.
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.
Afiliação
  • 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 Universit
  • 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.
  • 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.
  • 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 Queensl
  • Manos K; Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Austin Health, Heidelberg, Vic, Australia.
  • Grigg AP; Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Clinical Haematology, Austin Health, Heidelberg, Vic, Australia.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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,
  • Perkins AC; Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology, Alfred Hospital, Monash University, Melbourne, Vic, Australia.
  • 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.
Pathology ; 53(3): 339-348, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33674147
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia / Síndrome Hipereosinofílica / Mastocitose Sistêmica / Transtornos Mieloproliferativos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Pathology Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucemia / Síndrome Hipereosinofílica / Mastocitose Sistêmica / Transtornos Mieloproliferativos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Pathology Ano de publicação: 2021 Tipo de documento: Article