Comparison and Implications of Mutational Profiles of Myelodysplastic Syndromes, Myeloproliferative Neoplasms, and Myelodysplastic/Myeloproliferative Neoplasms: A Meta-Analysis

Effects of Mutational Combinations on Philadelphia-Negative Myeloproliferative Neoplasms

Myelodysplastic/myeloproliferative neoplasms.

Myelodysplastic/myeloproliferative neoplasms (MDS/MPNs) are rare de novo myeloid neoplasms that exhibit hybrid dysplastic and proliferative features at presentation. This SHP/EAHP Workshop session was uniquely problematic owing to the overlap between MDS/MPNs and both chronic myeloproliferative neoplasms and myelodysplasia. The borderline between MDS/MPNs and overt acute myeloid leukemias was a...

Myelodysplastic/myeloproliferative neoplasms.

According to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, myelodysplastic/myeloproliferative neoplasms are clonal myeloid neoplasms that have some clinical, laboratory, or morphologic findings that support a diagnosis of myelodysplastic syndrome, and other findings that are more consistent with myeloproliferative neoplasms. These disorders ...

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...

Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.

Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 17...