Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic era

Leukemia
L FalchiSrdan Verstovsek

Abstract

The molecular characterization of myeloproliferative neoplasms, including essential thrombocythemia (ET), has enabled deeper understanding of their pathogenesis. A driver lesion, namely, Janus kinase (JAK)2V617F, calreticulin (CALR) or myeloproliferative leukemia (MPL) gene mutation can be identified in the vast majority of patients. Each of these mutations is associated with distinct clinical features and may modulate the patients' clinical course, risk of complications, including vascular events, and survival. JAK2V617F appears to be a risk-modifying mutation and has been shown to increase the likelihood of thrombotic events in patients with ET across studies. As such, it has been included in prognostic models and its presence may influence treatment decisions. The association of CALR and MPL mutations with the incidence of vascular events has been less clear. Even more limited information is available on the contribution of additional non-driver lesions to the thrombotic risk. In this review we discuss the available evidence on the role of recurrent mutations in the risk of thrombotic complications in patients with ET and how these mutations weigh into modern prognostic scores.

References

Nov 16, 2004·The American Journal of Medicine·Francesco PassamontiMario Lazzarino
Apr 27, 2005·Experimental Hematology·Anna FalangaTiziano Barbui
Apr 29, 2005·The New England Journal of Medicine·Robert KralovicsRadek C Skoda
Oct 4, 2005·British Journal of Haematology·Alexandra P WolanskyjAyalew Tefferi
Feb 3, 2007·The New England Journal of Medicine·Linda M ScottAnthony R Green
Feb 12, 2009·American Journal of Hematology·Francesca PalandriNicola Vianelli
Jul 8, 2009·Annals of Hematology·Valerio De StefanoUNKNOWN GIMEMA Chronic Myeloproliferative Neoplasms Working Party
Aug 13, 2009·Thrombosis Research·Federico LussanaUNKNOWN Italian Society for Haemostasis and Thrombosis
Jun 17, 2010·American Journal of Clinical Pathology·Shrimati ShettyKanjaksha Ghosh
Jan 6, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Tiziano BarbuiUNKNOWN European LeukemiaNet
Feb 11, 2011·Current Opinion in Hematology·Omar Abdel-Wahab
Mar 1, 2012·The International Journal of Biochemistry & Cell Biology·Wen-An WangMarek Michalak
Apr 12, 2013·Blood·Elisa RumiUNKNOWN Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative

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Citations

Apr 7, 2020·Expert Review of Hematology·Thomas Sau-Yan ChanEric Tse
Jul 21, 2020·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Xueya ZhangJingxin Pan
Aug 3, 2021·British Journal of Haematology·James Bussel, Nicole Kucine

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