Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia.

Blood 2014 Mar 26;123(10):1552-5. Epub 2013 Dec 26.

Department of Experimental and Clinical Medicine, University of Florence; and Azienda Ospedaliera-Universitaria Careggi, Florence, Italy.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2013-11-538983DOI Listing
March 2014
83 Reads

Publication Analysis

Top Keywords

patients
9
calr mutations
8
mpl-mutated patients
8
calr mutation
8
jak2 mpl
8
jak2- mpl-mutated
8
essential thrombocythemia
8
mutations clinical
8
mutations
6
calr
5
patients patients
4
patients calr-mutated
4
risk thrombosis
4
patients carrying
4
wild-type patients
4
mpl wild-type
4
mutation lower
4
lower risk
4
carrying calr
4
calr-mutated patients
4

References

(Supplied by CrossRef)
WHO classification of Tumors of Haematopoietic and Lymphoid Tissues
Swerdlow et al.
2008

Similar Publications