<i>CALR</i> mutation burden in essential thrombocythemia and disease outcome
Paola Guglielmelli, Natasha Szuber, Naseema Gangat, Giulio Capecchi, Chiara Maccari, Michaël Harnois, Omer Karrar, Maymona Abdelmagid, Manjola Balliu, Elena Nacca, Alessandro Atanasio, Ilaria Sestini, Audrey Désilets, Giuseppe Gaetano Loscocco, Giada Rotunno, Lambert Busque, Ayalew Tefferi, Alessandro M. Vannucchi
Abstract
ABSTRACT: Among 281 patients with essential thrombocythemia and calreticulin (CALR) mutation, we found a variant allele frequency of ≥60% to be associated with significantly shortened myelofibrosis-free survival, mostly apparent with CALR type-1 and CALR type-indeterminate mutations.
Topics & Concepts
Essential thrombocythemiaMyelofibrosisCalreticulinMutationPolycythemia veraMedicineInternal medicineGeneticsBiologyGeneBone marrowEndoplasmic reticulumMyeloproliferative Neoplasms: Diagnosis and TreatmentKruppel-like factors researchChronic Myeloid Leukemia Treatments