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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)2416-2419
Number of pages4
JournalBlood
Volume123
Issue number15
DOIs
Publication statusPublished - 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