DNMT3A mutations in myeloproliferative neoplasms

Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes

Alterations of epigenetic marks are thought to play an important role in myeloid malignancies. In particular, aberrant DNA methylation is a hallmark of these diseases. DNMT3A and DNMT3B methyltransferases have predominant role in de novo methylation of DNA. Mutations in DNMT3A have been found in roughly 20% of acute myeloid leukemia (AML). The precise mechanism by which DNMT3A may affect DNA me...

Calreticulin 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...

DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype.

Calreticulin Exon 9 Mutations in Myeloproliferative Neoplasms

BACKGROUND Calreticulin (CALR) mutations were recently discovered in patients with myeloproliferative neoplasms (MPNs). We studied the frequency and type of CALR mutations and their hematological characteristics. METHODS A total of 168 MPN patients (36 polycythemia vera [PV], 114 essential thrombocythemia [ET], and 18 primary myelofibrosis [PMF] cases) were included in the study. CALR mutatio...

Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms.

BACKGROUND Aberrant activation of tyrosine kinases, caused by either mutation or gene fusion, is of major importance for the development of many hematologic malignancies, particularly myeloproliferative neoplasms. We hypothesized that hitherto unrecognized, cytogenetically cryptic tyrosine kinase fusions may be common in non-classical or atypical myeloproliferative neoplasms and related myelody...