The Molecular Genetics of Myeloproliferative Neoplasms

Molecular diagnostics of myeloproliferative neoplasms.

Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. These discoveries have been rapidly incorporated into evolving molecular diagnostic algo...

Molecular biology of Philadelphia-negative myeloproliferative neoplasms

Myeloproliferative neoplasms are clonal diseases of hematopoietic stem cells characterized by myeloid hyperplasia and increased risk of developing acute myeloid leukemia. Myeloproliferative neoplasms are caused, as any other malignancy, by genetic defects that culminate in the neoplastic phenotype. In the past six years, since the identification of JAK2V617F, we have experienced a substantial i...

Effects of Mutational Combinations on Philadelphia-Negative Myeloproliferative Neoplasms

Molecular basis and clonal evolution of myeloproliferative neoplasms.

Myeloproliferative neoplasms (MPNs) represent a group of diseases that affect the myeloid lineage, characterized by the presence of an excess of terminally differentiated myeloid cells. Defects causing clonal hematopoiesis are a key factor in the emergence of these diseases. Throughout the years, a number of causative defects have been identified, predominantly affecting cytokine signaling and ...

Update in the myeloproliferative neoplasms.

The differential diagnosis of haematological abnormalities, such as leucocytosis, erythocytosis, thrombocytosis or indeed anaemia, is wide and disarming. Here we report on significant updates in the differential diagnosis of erythrocyosis and thrombocytosis presenting a simplified schema for the clinician. We then move to discuss significant advances in this field which have followed a series o...