title: Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment.
abstract: The incidence of essential thrombocythaemia (ET) in children (age ≤18 years) is extremely low. The natural course of the disorder in children has not been clarified. The rarity of patients and the variability of tested parameters make it difficult to draw any definitive conclusion in pathogenesis and diagnosis of paediatric ET. What makes the onset of thrombocytosis earlier in children is still uncertain. A diagnostic algorithm for paediatric ET has not been established, and current risk stratification used to guide therapeutic decisions in adults has not been validated in children. Vascular complications and transformation to myelofibrosis and leukaemia in this special entity have been reported, suggesting that ET in children is not an entirely benign disease. The crucial question is how to identify patients who are at high risk of complications and need treatment. There are insufficient data to recommend a specific agent in children. The purpose of this review is to outline the most recent progress in paediatric ET and to help with understanding the clinical course, molecular features, diagnosis and treatment strategies in this special group.
authors.affiliation: State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.
authors.forename: Rongfeng
authors.initials: R
authors.lastname: Fu
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.forename: Renchi
authors.initials: R
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000925:Anticoagulants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002999:Clone Cells / Q000737:chemistry / Q000473:pathology; D018450:Disease Progression; D058851:GPI-Linked Proteins / Q000032:analysis; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D015994:Incidence; D007223:Infant; D007519:Isoantigens / Q000032:analysis; D053614:Janus Kinase 2 / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000209:etiology; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use; D017354:Point Mutation; D055728:Primary Myelofibrosis / Q000209:etiology; D011799:Quinazolines / Q000627:therapeutic use; D011956:Receptors, Cell Surface / Q000032:analysis; D018570:Risk Assessment; D063189:Symptom Assessment; D013920:Thrombocythemia, Essential / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D019851:Thrombophilia / Q000209:etiology
chemical_list: D000925:Anticoagulants; C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D010975:Platelet Aggregation Inhibitors; D011799:Quinazolines; D011956:Receptors, Cell Surface; D053614:Janus Kinase 2; C021139:anagrelide; D006918:Hydroxyurea
keywords: JAK2 V617F mutation; children; diagnosis; essential thrombocythaemia; treatment