Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis
Journal
Blood Cancer Journal
Journal Volume
5
Journal Issue
3
Pages
e295
Date Issued
2015
Author(s)
Lim K.-H.
Chang Y.-C.
Gon-Shen Chen C.
Lin H.-C.
Wang W.-T.
Chiang Y.-H.
Cheng H.-I.
Su N.-W.
Lin J.
Chang Y.-F.
Chang M.-C.
Hsieh R.-K.
Kuo Y.-Y.
Abstract
Essential thrombocythemia (ET) is a clonal hematopoietic stem cell neoplasm and one of the classic BCL-ABL1-negative chronic myeloproliferative neoplasm (MPN), which also includes polycythemia vera and primary myelofibrosis (PMF).1 Recently, two seminal studies discovered a high frequency of somatic calreticulin (CALR) mutations in patients with JAK2/MPL-unmutated ET and PMF.2, 3 The pattern of most CALR mutations in MPN is heterozygous indels in exon 9 causing one-base pair (bp) reading frameshift. CALR mutations have been shown to have important diagnostic and prognostic significance in ET and PMF patients,2, 3, 4 and will likely be incorporated into the World Health Organization (WHO) diagnostic criteria for MPN. In vitro studies on the molecular pathogenesis of CALR mutations in MPN have shown controversial results in regard to the involvement and/or activation of the JAK/STAT signaling pathway,2, 3 and the exact pathogenesis of CALR mutations is not yet completely understood at the present time.5
SDGs
Type
letter