title: Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome.
abstract: Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd-Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.
authors.affiliation: a Department of Pediatric Haematology, Meram Medical Faculty , Necmettin Erbakan University , Konya , Turkey .
authors.forename: Huseyin
authors.initials: H
authors.lastname: Tokgoz
authors.affiliation: a Department of Pediatric Haematology, Meram Medical Faculty , Necmettin Erbakan University , Konya , Turkey .
authors.forename: Umran
authors.initials: U
authors.lastname: Caliskan
authors.affiliation: b Department of Pediatric Gastroenterology, Meram Medical Faculty , Necmettin Erbakan University , Konya , Turkey , and.
authors.forename: Hasan Ali
authors.initials: HA
authors.lastname: Yüksekkaya
authors.affiliation: c Department of Internal Medicine , Bilim University Medicine Faculty , Istanbul , Turkey.
authors.forename: Reyhan
authors.initials: R
authors.lastname: Kucukkaya
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D006502:Budd-Chiari Syndrome / Q000175:diagnosis*; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009154:Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013920:Thrombocythemia, Essential / Q000175:diagnosis* / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D003062:Codon; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human
keywords: Budd–Chiari syndrome; essential thrombocythemia; mutation