Three novel calreticulin mutations in two Turkish patients
Citation
Hancer, V. S., Tokgoz, H., Guvenc, S., Caliskan, U., & Buyukdogan, M. (2017). Three Novel Calreticulin Mutations in Two Turkish Patients. TURKISH JOURNAL OF HEMATOLOGY, 34(4), 360–361. https://doi.org/10.4274/tjh.2017.0146Abstract
Calreticulin (CALR) mutations were first identified exclusively in
JAK2-MPL-negative essential thrombocythemia (ET) and primary
myelofibrosis (PMF) at a rate of 60%-88%, accounting for 1/4 to
1/3 of all patients with ET and PMF [1,2,3]. As of today, more than
55 different types of mutations have been reported. The two most
common mutations accounting for 85% of mutated cases are
either a 52-bp deletion (type 1; c.1099_1150del; L367fs*46; 44%-
53% of cases) or a 5-bp insertion (type 2; c.1154_1155insTTGTC;
K385fs*47; 32%-42% of cases). The remaining 15% include
various other infrequent mutations that are often unique or
found in only a few patients [4,5].
