Defective interaction of mutant calreticulin and SOCE in megakaryocytes from patients with myeloproliferative neoplasms

• Published in: Blood Vol. 135; no. 2; pp. 133 - 144
• Main Authors: Di Buduo, Christian A., Abbonante, Vittorio, Marty, Caroline, Moccia, Francesco, Rumi, Elisa, Pietra, Daniela, Soprano, Paolo M., Lim, Dmitry, Cattaneo, Daniele, Iurlo, Alessandra, Gianelli, Umberto, Barosi, Giovanni, Rosti, Vittorio, Plo, Isabelle, Cazzola, Mario, Balduini, Alessandra
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 09.01.2020; American Society of Hematology
• Subjects: Calcium Release Activated Calcium Channels - genetics; Calcium Release Activated Calcium Channels - metabolism; Calreticulin - genetics; Calreticulin - metabolism; Case-Control Studies; Humans; Life Sciences; Megakaryocytes - metabolism; Megakaryocytes - pathology; Mutation; Myeloid Neoplasia; Myeloproliferative Disorders - genetics; Myeloproliferative Disorders - metabolism; Myeloproliferative Disorders - pathology; Neoplasm Proteins - genetics; Neoplasm Proteins - metabolism; Protein Disulfide-Isomerases - genetics; Protein Disulfide-Isomerases - metabolism; Stromal Interaction Molecule 1 - genetics; Stromal Interaction Molecule 1 - metabolism

Approximately one-fourth of patients with essential thrombocythemia or primary myelofibrosis carry a somatic mutation of the calreticulin gene (CALR), the gene encoding for calreticulin. A 52-bp deletion (type I mutation) and a 5-bp insertion (type II mutation) are the most frequent genetic lesions....