title: Mutations and chromosomal rearrangements of JAK2: not only a myeloid issue.
abstract: Until today, JAK2 alterations have been mainly associated with myeloid malignancies among which they play a key pathogenic role in chronic myeloproliferative neoplasms. More recently, aberrations involving the JAK2 gene have also been reported in lymphoid diseases, including acute leukemia and lymphomas. In addition, the constitutively activating JAK2V617F mutation has been identified in some patients affected by B-chronic lymphocytic leukemia with a concomitant myeloproliferative neoplasm. Interestingly, these cases could help us to better understand the pathogenesis of these myeloid and lymphoid diseases and reveal if they share a common ancestral progenitor or just coincide. The involvement of JAK2 in lymphoid neoplasms may suggest the possibility of new therapeutic approaches broadening the use of JAK1-2 inhibitors also to these malignancies.
authors.affiliation: Hematology and Bone Marrow Transplant Unit of Azienda Ospedaliera Papa Giovanni XXIII, Piazza OMS 1, 24127 Bergamo, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Salmoiraghi
authors.forename: Marie Lorena Guinea
authors.initials: ML
authors.lastname: Montalvo
authors.forename: Elena
authors.initials: E
authors.lastname: D'Agostini
authors.forename: Giulia
authors.initials: G
authors.lastname: Amicarelli
authors.forename: Giulia
authors.initials: G
authors.lastname: Minnucci
authors.forename: Orietta
authors.initials: O
authors.lastname: Spinelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Rambaldi
mesh_terms: D000208:Acute Disease; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D014178:Translocation, Genetic
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2