Title |
Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia
|
---|---|
Published in |
Blood, December 2013
|
DOI | 10.1182/blood-2013-11-538983 |
Pubmed ID | |
Authors |
Giada Rotunno, Carmela Mannarelli, Paola Guglielmelli, Annalisa Pacilli, Alessandro Pancrazzi, Lisa Pieri, Tiziana Fanelli, Alberto Bosi, Alessandro M. Vannucchi |
Abstract |
Mutations in the calreticulin (CALR) gene were recently discovered in patients with essential thrombocythemia (ET) lacking the JAK2V617F and MPLW515 mutations, but no information is available on the clinical correlates. In this series, CALR mutations were found in 15.5% of 576 World Health Organization-defined ET patients, accounting for 48.9% of JAK2 and MPL wild-type (wt) patients. CALR-mutated patients were preferentially male and showed higher platelet count and lower hemoglobin and leukocyte count compared with JAK2- and MPL-mutated patients. Patients carrying the CALR mutation had a lower risk of thrombosis than JAK2- and MPL-mutated patients; of interest, their risk was superimposable to patients who were wt for the above mutations. CALR mutation had no impact on survival or transformation to post-ET myelofibrosis. Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | <1% |
United States | 1 | <1% |
India | 1 | <1% |
China | 1 | <1% |
Unknown | 161 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 31 | 19% |
Researcher | 22 | 13% |
Other | 19 | 12% |
Student > Doctoral Student | 11 | 7% |
Professor > Associate Professor | 10 | 6% |
Other | 32 | 19% |
Unknown | 40 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 75 | 45% |
Biochemistry, Genetics and Molecular Biology | 19 | 12% |
Agricultural and Biological Sciences | 16 | 10% |
Immunology and Microbiology | 2 | 1% |
Veterinary Science and Veterinary Medicine | 2 | 1% |
Other | 3 | 2% |
Unknown | 48 | 29% |