A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia

Calreticulin (CALR) is a calcium-binding protein chaperone that may be found throughout the extracellular matrix and membranes of cells. It regulates calcium homeostasis and ensures the appropriate folding of newly generated glycoproteins within the endoplasmic reticulum. A somatic mutation in JAK2, CALR, or MPL is responsible for the great majority of essential thrombocythemia (ET) cases. ET has a diagnostic and prognostic value because of the sort of mutation that causes it. ET patients with the JAK2 V617F mutation had more noticeable leukocytosis, higher hemoglobin levels, and lower platelet levels, but also more thrombotic problems and a higher risk of PV transition.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research