JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis.
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.
Kurosawa
Hidemitsu
H
Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, Japan. hidekuro@dokkyomed.ac.jp
Okuya
Mayuko
M
Matsushita
Takashi
T
Kubota
Takeo
T
Endoh
Kazushi
K
Kuwashima
Shigeko
S
Hagisawa
Susumu
S
Sato
Yuya
Y
Fukushima
Keitaro
K
Sugita
Kenichi
K
Okada
Yoshuifumi
Y
Park
Myoung-Ja
MJ
Hayashi
Yasuhide
Y
Arisaka
Osamu
O
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
D003603:Cytotoxins; D010975:Platelet Aggregation Inhibitors; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D001241:Aspirin; D006918:Hydroxyurea