Background. Essential thrombocythemia (ET) and primary myelofibrosis (MF) aremyeloproliferative neoplasms characterized by the overproduction of mature cells such as platelets(ET) or early bone marrow fibrosis due to scarring induced by highly proliferating myeloidprogenitors and pathological stimulation of local fibroblasts (MF). Somatic mutations in CALRgene have recently identified in the majority of JAK2-V617F and MPL negative ET and MFpatients. In this study we evaluated the frequency and type of CALR mutations and their clinicaland hematological features.Methods. A total of 54 patients, 29 ET and 25 MF patient, was included in this study. All patientswere JAK2 V617F and MPL negative. We registered clinical and hematological characteristics ofpatients i.e. age, hemoglobin level, white blood cell count, platelet count, International PrognosticScoring System (IPSS), risk of thrombosis. Samples were collected from peripheral blood andDNA was extracted by using the QIAamp DNA mini kit (QIAGEN); CALR mutations wereanalyzed by direct sequencing method.Results. CALR mutations were present in 20.4 % of patients (4 ET; 7 MF). Four types of CALRmutations were detected; type 1 (p.L367fs*46) was isolated in 6 MF patient, type 2 (p.K385fs*47)was isolated in 3 ET patient; we also found 2 deletion mutations (p.E371fs*49 and D373fs*47),which are less common deletions, in the remaining patients. Patients carrying CALR mutationswere younger (mediane age: 50 vs 65; p=0.2) than CALR negative patients. Furthermore, they didnot show thrombosis and IPSS high risk.Conclusions. Our observations are in agreement with the findings of literature. We can assert animproved outcome of CALR mutated patients and we can also speculate a possible protective roleof CARL mutations given the absence of thrombosis events and of IPSS high risk. However, thecohort of patients with myeloproliferative disease need to be implemented to draw final conclusion.
|Numero di pagine||1|
|Stato di pubblicazione||Published - 2016|