Virginia Valeria Ferretti

TL;DR: Most patients with essential thrombocythemia or primary myelofibrosis that was not associated with a JAK2 or MPL alteration carried a somatic mutation in CALR, and patients with mutated CALR had a lower risk ofThrombosis and longer overall survival than patients with mutations in J AK2.

TL;DR: Observations are consistent with the notion that JAK2-mutated essential thrombocythemia and polycythemia vera represent different phenotypes of a single myeloproliferative neoplasm, whereas CALR-mutation essential thROMbocyhimia is a distinct disease entity.

TL;DR: Mutation analysis on peripheral blood granulocytes may significantly improve the current diagnostic approach to unexplained cytopenia and more generally the diagnostic accuracy of myeloid neoplasms.

TL;DR: Observations indicate that driver mutations define distinct disease entities within PMF, which is not only relevant to clinical decision-making, but should also be considered in designing clinical trials.

TL;DR: Mutation subtype contributes to determining clinical phenotype and outcomes in CALR-mutant myeloproliferative neoplasms, and CALR variants that markedly impair the calcium binding activity of mutant calreticulin are mainly associated with a myelofibrosis phenotype.