JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes

Author:

Rumi Elisa12,Pietra Daniela1,Ferretti Virginia1,Klampfl Thorsten3,Harutyunyan Ashot S.3,Milosevic Jelena D.3,Them Nicole C. C.3,Berg Tiina3,Elena Chiara1,Casetti Ilaria C.2,Milanesi Chiara1,Sant’Antonio Emanuela2,Bellini Marta2,Fugazza Elena1,Renna Maria C.2,Boveri Emanuela4,Astori Cesare1,Pascutto Cristiana1,Kralovics Robert35,Cazzola Mario12

Affiliation:

1. Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy;

2. Department of Molecular Medicine, University of Pavia, Pavia, Italy;

3. Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria;

4. Anatomic Pathology Section, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy; and

5. Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, Vienna, Austria

Abstract

Key Points JAK2 (V617F)-mutated essential thrombocythemia and polycythemia vera are different phenotypes in the evolution of a single neoplasm. CALR-mutated essential thrombocythemia is a distinct disease entity not only at the molecular level, but also with respect to clinical outcomes.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference38 articles.

1. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues.;Swerdlow,2008

2. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.;James;Nature,2005

3. A gain-of-function mutation of JAK2 in myeloproliferative disorders.;Kralovics;N Engl J Med,2005

4. Genetic and epigenetic complexity in myeloproliferative neoplasms.;Cross,2011

5. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.;Passamonti;Blood,2011

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