title: How I treat essential thrombocythemia.
abstract: Essential thrombocythemia (ET) is an indolent myeloproliferative neoplasm that may be complicated by vascular events, including both thrombosis and bleeding. This disorder may also transform into more aggressive myeloid neoplasms, in particular into myelofibrosis. The identification of somatic mutations of JAK2, CALR, or MPL, found in about 90% of patients, has considerably improved the diagnostic approach to this disorder. Genomic profiling also holds the potential to improve prognostication and, more generally, clinical decision-making because the different driver mutations are associated with distinct clinical features. Prevention of vascular events has been so far the main objective of therapy, and continues to be extremely important in the management of patients with ET. Low-dose aspirin and cytoreductive drugs can be administered to this purpose, with cytoreductive treatment being primarily given to patients at high risk of vascular complications. Currently used cytoreductive drugs include hydroxyurea, mainly used in older patients, and interferon α, primarily given to younger patients. There is a need for disease-modifying drugs that can eradicate clonal hematopoiesis and/or prevent progression to more aggressive myeloid neoplasms, especially in younger patients. In this article, we use a case-based discussion format to illustrate our approach to diagnosis and treatment of ET.
authors: Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo, Pavia, Italy; and.|Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Elisa
authors: 0000-0002-7572-9504
authors: E
authors: Rumi
authors: Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo, Pavia, Italy; and.|Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Mario
authors: 0000-0001-6984-8817
authors: M
authors: Cazzola
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D000066491:Clinical Decision-Making; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: D010649:Phenylalanine; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D014633:Valine