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- Title
Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia.
- Authors
Chen, Chih-Cheng; Gau, Jyh-Pyng; Chou, Hui-Ju; You, Jie-Yu; Huang, Cih-En; Chen, Yi-Yang; Lung, Jrhau; Chou, Yi-Sheng; Leu, Yu-Wei; Lu, Chang-Hsien; Lee, Kuan-Der; Tsai, Ying-Huang
- Abstract
Calreticulin ( CALR) mutations were recently identified in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) devoid of JAK2 and MPL mutations. We evaluated the clinical, laboratory, and molecular features of a Taiwanese population of patients with ET. Among 147 ET patients, CALR mutations were detected in 33 (22.5 %), JAK2V617F in 94 (63.9 %), and MPL mutations in 4 (2.7 %). Sixteen (10.9 %) patients were negative for all three mutations ( CALR, JAK2V617F, and MPL; triple negative). Interestingly, one patient with the type 2 CALR mutation also harbored a low allele burden (0.025 %) of JAK2V617F mutation. Furthermore, we found a novel CALR mutation, with the resultant protein sharing an identical amino acid sequence to the type 6 CALR mutant. Compared to those with JAK2 mutation, CALR-mutated ET patients were characterized by younger age, lower leukocyte count, higher platelet count, and decreased risk of thrombosis. CARL mutations had a favorable impact on thrombosis-free survival (TFS) for ET patients, whereas the respective TFS outcomes were similarly poorer in JAK2-mutated ET and PV patients. Multivariate analysis confirmed that younger age (<60 years), presence of CALR mutations, and a lower platelet count (<1,000 × 10/L) were independently associated with a longer TFS in ET patients. The current study demonstrates that CALR mutations characterize a special group of ET patients with unique phenotypes that are not discrepant from those seen in Western countries.
- Subjects
THROMBOCYTOPENIA treatment; MYELOPROLIFERATIVE neoplasms; GENETIC mutation; CALRETICULIN; PROTEIN-tyrosine kinases; LEUKOCYTE count
- Publication
Annals of Hematology, 2014, Vol 93, Issue 12, p2029
- ISSN
0939-5555
- Publication type
Article
- DOI
10.1007/s00277-014-2151-8