Calreticulin Mutated Essential Thrombocythemia Presenting as Acute Coronary Syndrome
نویسندگان
چکیده
Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by a clonal expansion of megakaryocytes. ET can result in both arterial and venous thrombosis. Involvement of the coronary arteries has been reported. Patients who harbor a CALR mutation are half as likely to suffer a thrombotic event as compared to patients with a JAK2 mutation. We report a case of CALR-mutated ET whose initial disease manifestation was a non-ST segment elevation myocardial infarction.
منابع مشابه
JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.
Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. We studied biologic and clinical features of essential thrombocythemia according to JAK2 or CALR mutation status and in relation to those of polycythemia vera. The mutant allele burden was lower in JAK2-mutated than in CALR-mutated essential thrombocythemia. Patients with...
متن کاملThe Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia
OBJECTIVE Calreticulin (CALR) plays important roles in cell proliferation, apoptosis, and immune responses. CALR mutations were described recently in Janus kinase 2 gene (JAK2)-negative or MPL-negative primary myelofibrosis (PMF) and essential thrombocythemia (ET) patients. CALR trails JAK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs). However, little is known about CA...
متن کاملCalreticulin Mutations in Myeloproliferative Neoplasms
With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph(-)) myeloproliferative neoplasms (MPNs) in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations...
متن کاملEvaluation of vascular events in patients with myeloproliferative syndromes and mutations of either the januskinase-2 or calreticulin gene at the university hospital Krems from 2008 to 2015
Myeloproliferative neoplasms (MPN), classified as polycythemia vera (PV), essential thrombocytosis (ET) and myelofibrosis (MF) are stem-cell derived disorders. Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascula...
متن کاملDistinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations.
Somatic insertions/deletions in the calreticulin gene have recently been discovered to be causative alterations in myeloproliferative neoplasms. A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting and Sanger-sequencing was applied for the detection of three driver mutations (in Janus kinase 2, calreticulin and myelopr...
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ورودعنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015