Mutation-enhanced international prognostic systems for essential thrombocythaemia and polycythaemia vera.


Journal

British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544

Informations de publication

Date de publication:
04 2020
Historique:
received: 21 08 2019
accepted: 15 10 2019
pubmed: 17 1 2020
medline: 15 12 2020
entrez: 17 1 2020
Statut: ppublish

Résumé

Survival prediction in essential thrombocythaemia (ET) and polycythaemia vera (PV) is currently based on clinically-derived variables; we examined the possibility of integrating genetic information for predicting survival. To this end, 906 molecularly-annotated patients (416 Mayo Clinic; 490 University of Florence, Italy), including 502 ET and 404 PV, were recruited. Multivariable analysis identified spliceosome mutations to adversely affect overall (SF3B1, SRSF2 in ET and SRSF2 in PV) and myelofibrosis-free (U2AF1, SF3B1 in ET) survival; TP53 mutations predicted leukaemic transformation in ET; "adverse" mutations occurred in 51 (10%) ET and 8 (2%) PV patients. We confirmed the independent survival effect of adverse mutations [hazard ratio (HR) 2·4, 95% CI 1·6-3·5], age >60 years (6·6, 4·6-9·7), male sex (1·8, 1·3-2·4) and leukocytosis ≥11 × 10

Identifiants

pubmed: 31945802
doi: 10.1111/bjh.16380
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

291-302

Subventions

Organisme : Mayo Clinic
Pays : International
Organisme : Henry J. Predolin foundation
Pays : International
Organisme : University of Florence
Pays : International
Organisme : Associazione Italiana per la Ricerca sul Cancro
Pays : International
Organisme : MYeloid NEoplasms Research Venture AIRC
ID : 21267
Pays : International
Organisme : Progetto Ministero della Salute
ID : GR-2011-02352109
Pays : International

Informations de copyright

© 2020 British Society for Haematology and John Wiley & Sons Ltd.

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Auteurs

Ayalew Tefferi (A)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Paola Guglielmelli (P)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Terra L Lasho (TL)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Giacomo Coltro (G)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Christy M Finke (CM)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Giuseppe G Loscocco (GG)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Benedetta Sordi (B)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Natasha Szuber (N)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Giada Rotunno (G)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Annalisa Pacilli (A)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

Curtis A Hanson (CA)

Division of Hematopathology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Rhett P Ketterling (RP)

Division of Laboratory Genetics and Genomics, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Animesh Pardanani (A)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Naseema Gangat (N)

Division of Hematology, Departments of Internal Medicine and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.

Alessandro M Vannucchi (AM)

Department of Experimental and Clinical Medicine, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliera Universitaria Careggi, University of Florence, and Denothe Excellence Center, Florence, Italy.

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