evaluation of common genetic disorders in myeloproliferative neoplasms

Genetic–pathologic characterization of myeloproliferative neoplasms

Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages. The current study demonstrates that three driver mutations were detected in 82.6% of 407 MPNs with a mutation distribution of JAK2 in 275 (67.6%), CALR in 55 (13.5%) and MPL in 6 (1.5%). The mutations were mutually exclusive in principle except in ...

Epigenetics in Myeloproliferative Neoplasms

A decade on from the description of JAK2 V617F, the MPNs are circumscribed by an increasingly intricate landscape. There is now evidence that they are likely the result of combined genetic dysregulation, with several mutated genes involved in the regulation of epigenetic mechanisms. Epigenetic changes are not due to a change in the DNA sequence but are reversible modifications that dictate the ...

Effects of Mutational Combinations on Philadelphia-Negative Myeloproliferative Neoplasms

Myeloproliferative Disorders BCR-ABL1—Negative Myeloproliferative Neoplasms: A Review of Molecular Biology, Diagnosis, and Treatment

In 2008, the World Health Organization expanded the classification of myeloproliferative disorders based on increasing amounts of molecular and cytogenetic data. Myeloproliferative neoplasms (MPN) that do not contain the BCR-ABL1 mutation include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). JAK2V617F is the best characterized mutation in BCR-ABL1–nega...

The genetic basis of myeloproliferative disorders.

For many decades, myeloproliferative disorders (MPD) were largely neglected orphan diseases. The conceptual work of William Dameshek in 1951 provided the basis for understanding MPD as a continuum of related syndromes, possibly with a common pathogenetic cause. Recognition of the clonal origin of peripheral blood cells in MPD in 1976 and the ability to grow erythroid colonies in vitro in the ab...

Genetic and epigenetic alterations of myeloproliferative disorders.

The classical BCR-ABL negative myeloproliferative neoplasms (MPN) polycythemia vera, essential thrombocythemia, and primary myelofibrosis are clonal hematopoietic disorders characterized by excessive production of terminally differentiated myeloid cells. In MPN patients, the disease can progress to secondary myelofibrosis or acute myeloid leukemia. Clonal hematopoiesis, disease phenotype, and p...