Systemic Mastocytosis
The clinical presentation of mastocytosis is diverse, and patients may not fit the classical description. Diagnosis requires a bone marrow examination, including immunohistochemical stains for mast cell tryptase or CD117….
Clinical Predictors of Outcome in MPN
Myeloproliferative neoplasms include 3 diseases: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). PV and ET are dominated by a high risk of thrombosis and a late risk…
Therapy with JAK2 Inhibitors for Myeloproliferative Neoplasms
The development of JAK2 inhibitors followed the discovery of activating mutation of JAK2 (JAK2V617F) in patients with classic Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPN). It is now known that mutations activating…
Myeloproliferative Neoplasm Animal Models
Myeloproliferative neoplasm (MPN) animal models accurately re-capitulate human disease in mice and have been an important tool for the study of MPN biology and therapy. Transplantation of BCR-ABL transduced bone…
Role of TET2and ASXL1Mutations in the Pathogenesis of Myeloproliferative Neoplasms
Since the discovery of activating mutations in JAK2 in patients with myeloproliferative neoplasms (MPNs) in 2005, gene discovery efforts have identified additional disease alleles, which can predate or occur subsequent…
Role of Germline Genetic Factors in MPN Pathogenesis
It is thought that myeloproliferative neoplasms (MPNs) are driven by somatic mutations, although hereditary factors also play a prominent role in the pathogenesis of the disease. Hereditary thrombocytosis and erythrocytosis…
Genotype-Phenotype Interactions in the Myeloproliferative Neoplasms
The chronic myeloproliferative neoplasms (MPNs) are clonal disorders characterized by overproduction of mature myeloid cells. They share associations with molecular abnormalities such as the JAK2V617F mutation but are distinguished by…
Role of Additional Novel Therapies in Myeloproliferative Neoplasms
The recent approval of ruxolitinib (INCB018424) for myelofibrosis and the preclinical/clinical development of several additional janus kinase (JAK)-targeted agents have ushered in an era of novel therapies for advanced myeloproliferative…
Acquired Uniparental Disomy in Myeloproliferative Neoplasms
The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several…
Systemic Mastocytosis
The clinical presentation of mastocytosis is diverse, and patients may not fit the classical description. Diagnosis requires a bone marrow examination, including immunohistochemical stains for mast cell tryptase or CD117….
