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Genetic Risk for Thrombosis in Thrombocythemia
Am J Hematol; 2016 May; Elala, Lasho, et al
In essential thrombocythemia, driver mutational status does not seem to impact overall or leukemia-free survival, even after calreticulin (CALR) variant stratification, according to a study involving 495 individuals. However, the presence of MPL mutations might be linked with a higher risk of thrombosis.
Investigators examined the impact of certain mutations on overall survival, as well as myelofibrosis-free (MFFS), thrombosis-free, and leukemia-free survival. Among the results:
• Two-thirds had JAK2 mutations, whereas 22% had CALR, and 2% had MPL mutations; 11% were triple-negative.
• 52% of the CALR-mutated cases were type 1/type 1-like; the remainder were type 2/type 2-like.
• MFFS was significantly shorter in MPL-mutated patients.
• The presence of JAK2 or MPL mutations was independently linked with higher risk of thrombosis.
Citation: Elala Y, Lasho T, Gangat N, et al. Calreticulin variant stratified driver mutational status and prognosis in essential thrombocythemia. Am J Hematol. 2016;91(5):503-506. doi:10.1002/ajh.24338.