title: The molecular landscape of childhood myeloproliferative neoplasms.
abstract: The classical myeloproliferative neoplasms (MPN) are comparatively uncommon in children and display a degree of mutational naivety if considering the high frequency of known MPN driver events observed in the corresponding adult diseases. Whole exome sequencing has unravelled much of the underlying molecular complexity of MPN in adult patients yet less is known of the pathogenetic mechanisms when these diseases occur in childhood. It is proposed that such methodological approaches will contribute significant insights into the molecular landscape of childhood MPN that may in turn impact on understanding the pathophysiology of disease in their adult counterparts.
authors.affiliation: Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland. Electronic address: slangabeer@stjames.ie.
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Langabeer
authors.affiliation: Cancer Molecular Diagnostics, St. James's Hospital, Dublin, Ireland.
authors.forename: Karl
authors.initials: K
authors.lastname: Haslam
authors.affiliation: Department of Haematology, Our Lady's Children's Hospital, Dublin, Ireland.
authors.forename: Corrina
authors.initials: C
authors.lastname: McMahon
mesh_terms: D000328:Adult; D017668:Age of Onset; D019046:Bone Marrow Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002648:Child; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000453:epidemiology / Q000235:genetics*; D053628:Receptors, Thrombopoietin / Q000235:genetics
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: CALR; Childhood; JAK2 V617F; Myeloproliferative neoplasms