title: Clinical relevance between CALR mutation and myeloproliferative neoplasms.
abstract: In late 2013, somatic mutations in calreticulin (CALR), mainly those involving insertions and deletions in exon 9, attracted the great attention of hematologists and researchers. These JAK2- and MPL- mutual exclusive mutations enjoy a favorable specificity and prevalence (20-30%) in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), suggesting promise for these mutations in disease management. Moreover, these genetic variations are now also considered as a group of independent risk factors for disease prognosis. In this mini-review, we will document the value of CALR mutations in disease diagnosis, prognosis, and therapeutic strategy selection, and we will discuss current advances in methods to detect these mutations.
authors.affiliation: 1 Department of Laboratory Medicine, Huashan Hospital North, Shanghai Medical College, Fudan University, Shanghai 201907, China ; 2 Central Laboratory, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China ; 3 Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15260, USA.
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Wu
authors.affiliation: 1 Department of Laboratory Medicine, Huashan Hospital North, Shanghai Medical College, Fudan University, Shanghai 201907, China ; 2 Central Laboratory, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China ; 3 Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15260, USA.
authors.forename: Chen
authors.initials: C
authors.lastname: Zhang
authors.affiliation: 1 Department of Laboratory Medicine, Huashan Hospital North, Shanghai Medical College, Fudan University, Shanghai 201907, China ; 2 Central Laboratory, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China ; 3 Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15260, USA.
authors.forename: Xiaochao
authors.initials: X
authors.lastname: Ma
authors.affiliation: 1 Department of Laboratory Medicine, Huashan Hospital North, Shanghai Medical College, Fudan University, Shanghai 201907, China ; 2 Central Laboratory, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China ; 3 Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA 15260, USA.
authors.forename: Ming
authors.initials: M
authors.lastname: Guan
keywords: Calreticulin (CALR); genetic mutation; myeloproliferative neoplasms