The discovery of calreticulin mutations has significantly improved the diagnostic approach to BCR-ABL1-negative myeloproliferative neoplasms (MPNs). Such mutations are found in 50-70% of essential thrombocythemia (ET) and 60-90% of primary myelofibrosis (PMF) cases that are negative for mutated JAK2 and MPL. The most recent data indicate an association of calreticulin mutation status with particular morphologic features and possible clinical implications. Essential Thrombocythemia with Mutation in Calreticulin Gene is one such mutation. This case is published by the Society of Hematopathology.
Upon completion of this course you should be able to:
· Review morphologic features of essential thrombocythemia.
· Discuss genomic landscape of essential thrombocythemia and primary myelofibrosis.
· Discuss clinical implications of calreticulin mutation status.
· Explore diagnostic utility of calreticulin immunostain