title: JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis.
abstract: Myeloproliferative diseases (MPDs) in childhood are quite rare. Although pediatric and adult MPDs exhibit similar hematologic findings, JAK2V617F mutations and clonality status of MPDs in the DNA of neutrophils are evaluated less frequently in children than in adults. Increased incidence of venous thrombosis at uncommon sites is associated with JAK2V617F mutation in MPDs and thrombotic complications are more common in essential thrombocythemia (ET). Here, we describe 6-year-old girl with clonal myelopoiesis and JAK2V617F-positive ET associated with cerebral venous sinus thrombosis. To our knowledge, this is the first report of pediatric monoclonal and JAK2V617F-positive ET with cerebral venous sinus thrombosis.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan. hidekuro@dokkyomed.ac.jp
authors.forename: Hidemitsu
authors.initials: H
authors.lastname: Kurosawa
authors.forename: Mayuko
authors.initials: M
authors.lastname: Okuya
authors.forename: Takashi
authors.initials: T
authors.lastname: Matsushita
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Kazushi
authors.initials: K
authors.lastname: Endoh
authors.forename: Shigeko
authors.initials: S
authors.lastname: Kuwashima
authors.forename: Susumu
authors.initials: S
authors.lastname: Hagisawa
authors.forename: Yuya
authors.initials: Y
authors.lastname: Sato
authors.forename: Keitaro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sugita
authors.forename: Yoshuifumi
authors.initials: Y
authors.lastname: Okada
authors.forename: Myoung-Ja
authors.initials: MJ
authors.lastname: Park
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D001241:Aspirin / Q000627:therapeutic use; D002648:Child; D002999:Clone Cells / Q000473:pathology; D003603:Cytotoxins / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D006261:Headache / Q000209:etiology; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics*; D009325:Nausea / Q000209:etiology; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use; D012008:Recurrence; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D015173:Supratentorial Neoplasms / Q000175:diagnosis; D013920:Thrombocythemia, Essential / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D019851:Thrombophilia / Q000188:drug therapy / Q000209:etiology
chemical_list: D003603:Cytotoxins; D010975:Platelet Aggregation Inhibitors; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D001241:Aspirin; D006918:Hydroxyurea