TY - JOUR
T1 - CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis
AU - Rumi, Elisa
AU - Harutyunyan, Ashot S.
AU - Pietra, Daniela
AU - Milosevic, Jelena D.
AU - Casetti, Ilaria C.
AU - Bellini, Marta
AU - Them, Nicole C C
AU - Cavalloni, Chiara
AU - Ferretti, Virginia V.
AU - Milanesi, Chiara
AU - Berg, Tiina
AU - Sant'Antonio, Emanuela
AU - Boveri, Emanuela
AU - Pascutto, Cristiana
AU - Astori, Cesare
AU - Kralovics, Robert
AU - Cazzola, Mario
PY - 2014/4/10
Y1 - 2014/4/10
N2 - Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations. We studied CALR mutation status in familial cases of myeloproliferative neoplasm. In a cohort of 127 patients, CALR indels were identified in 6 of 55 (11%) subjects with ET and in 6 of 20 (30%) with PMF, whereas 52 cases of polycythemia vera had nonmutated CALR. All CALR mutations were somatic, found in granulocytes but not in T lymphocytes. Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incidence of thrombosis (P = .036) and of disease progression (P = .047) compared with those with JAK2 (V617F). In conclusion, a significant proportion of familial ET and PMF nonmutated for JAK2 carry a somatic mutation of CALR.
AB - Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations. We studied CALR mutation status in familial cases of myeloproliferative neoplasm. In a cohort of 127 patients, CALR indels were identified in 6 of 55 (11%) subjects with ET and in 6 of 20 (30%) with PMF, whereas 52 cases of polycythemia vera had nonmutated CALR. All CALR mutations were somatic, found in granulocytes but not in T lymphocytes. Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incidence of thrombosis (P = .036) and of disease progression (P = .047) compared with those with JAK2 (V617F). In conclusion, a significant proportion of familial ET and PMF nonmutated for JAK2 carry a somatic mutation of CALR.
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U2 - 10.1182/blood-2014-01-550434
DO - 10.1182/blood-2014-01-550434
M3 - Article
C2 - 24553179
AN - SCOPUS:84901777448
VL - 123
SP - 2416
EP - 2419
JO - Blood
JF - Blood
SN - 0006-4971
IS - 15
ER -