CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis

Elisa Rumi; Ashot S. Harutyunyan; Daniela Pietra; Jelena D. Milosevic; Ilaria C. Casetti; Marta Bellini; Nicole C C Them; Chiara Cavalloni; Virginia V. Ferretti; Chiara Milanesi; Tiina Berg; Emanuela Sant'Antonio; Emanuela Boveri; Cristiana Pascutto; Cesare Astori; Robert Kralovics; Mario Cazzola

doi:10.1182/blood-2014-01-550434

CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis

Elisa Rumi, Ashot S. Harutyunyan, Daniela Pietra, Jelena D. Milosevic, Ilaria C. Casetti, Marta Bellini, Nicole C C Them, Chiara Cavalloni, Virginia V. Ferretti, Chiara Milanesi, Tiina Berg, Emanuela Sant'Antonio, Emanuela Boveri, Cristiana Pascutto, Cesare Astori, Robert Kralovics, Mario Cazzola

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article

Abstract

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.

Original language	English
Pages (from-to)	2416-2419
Number of pages	4
Journal	Blood
Volume	123
Issue number	15
DOIs	https://doi.org/10.1182/blood-2014-01-550434
Publication status	Published - Apr 10 2014

ASJC Scopus subject areas

Hematology
Biochemistry
Cell Biology
Immunology

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Rumi, E., Harutyunyan, A. S., Pietra, D., Milosevic, J. D., Casetti, I. C., Bellini, M., Them, N. C. C., Cavalloni, C., Ferretti, V. V., Milanesi, C., Berg, T., Sant'Antonio, E., Boveri, E., Pascutto, C., Astori, C., Kralovics, R., & Cazzola, M. (2014). CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. Blood, 123(15), 2416-2419. https://doi.org/10.1182/blood-2014-01-550434

CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. / Rumi, Elisa; Harutyunyan, Ashot S.; Pietra, Daniela; Milosevic, Jelena D.; Casetti, Ilaria C.; Bellini, Marta; Them, Nicole C C; Cavalloni, Chiara; Ferretti, Virginia V.; Milanesi, Chiara; Berg, Tiina; Sant'Antonio, Emanuela; Boveri, Emanuela; Pascutto, Cristiana; Astori, Cesare; Kralovics, Robert; Cazzola, Mario.

In: Blood, Vol. 123, No. 15, 10.04.2014, p. 2416-2419.

Research output: Contribution to journal › Article

Rumi, E, Harutyunyan, AS, Pietra, D, Milosevic, JD, Casetti, IC, Bellini, M, Them, NCC, Cavalloni, C, Ferretti, VV, Milanesi, C, Berg, T, Sant'Antonio, E, Boveri, E, Pascutto, C, Astori, C, Kralovics, R & Cazzola, M 2014, 'CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis', Blood, vol. 123, no. 15, pp. 2416-2419. https://doi.org/10.1182/blood-2014-01-550434

Rumi, Elisa ; Harutyunyan, Ashot S. ; Pietra, Daniela ; Milosevic, Jelena D. ; Casetti, Ilaria C. ; Bellini, Marta ; Them, Nicole C C ; Cavalloni, Chiara ; Ferretti, Virginia V. ; Milanesi, Chiara ; Berg, Tiina ; Sant'Antonio, Emanuela ; Boveri, Emanuela ; Pascutto, Cristiana ; Astori, Cesare ; Kralovics, Robert ; Cazzola, Mario. / CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. In: Blood. 2014 ; Vol. 123, No. 15. pp. 2416-2419.

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title = "CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis",

abstract = "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.",

author = "Elisa Rumi and Harutyunyan, {Ashot S.} and Daniela Pietra and Milosevic, {Jelena D.} and Casetti, {Ilaria C.} and Marta Bellini and Them, {Nicole C C} and Chiara Cavalloni and Ferretti, {Virginia V.} and Chiara Milanesi and Tiina Berg and Emanuela Sant'Antonio and Emanuela Boveri and Cristiana Pascutto and Cesare Astori and Robert Kralovics and Mario Cazzola",

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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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