Article
CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis.
Blood - 10 Apr 2014
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
Abstract excerpt
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...
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