Skewed ratio between type 1 and type 2 CALR mutations in Essential Thrombocytosis patients with concomitant JAK2 V617F mutation.

Laura M Haunstrup,Lene H Ebbesen,Maria Hansen,Marianne T Severinsen,Anni Aggerholm

Experimental Hematology（2018）

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摘要

•There is a dominant calreticulin (CALR) clone in essential thrombocytosis (ET) with low-frequency Janus kinase 2 (JAK2) V617F mutation.•CALR clone dictates the disease phenotype in ET with concomitant JAK2 V617F mutation.•Extended molecular diagnostic tests are warranted in low-frequency JAK2 V617F myeloproliferative neoplasm (MPN) patients.

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关键词

CALR,Essential thrombocytosis,JAK2 V617F,driver mutations,myeloproliferative neoplasms

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