Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome

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dc.contributor.authorTokgoz, Huseyin
dc.contributor.authorCaliskan, Umran
dc.contributor.authorYuksekkaya, Hasan Ali
dc.contributor.authorKucukkaya, Reyhan
dc.date.accessioned2024-02-23T14:34:37Z
dc.date.available2024-02-23T14:34:37Z
dc.date.issued2015
dc.departmentNEÜen_US
dc.description.abstractEssential 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.en_US
dc.identifier.doi10.3109/09537104.2015.1041900
dc.identifier.endpage808en_US
dc.identifier.issn0953-7104
dc.identifier.issn1369-1635
dc.identifier.issue8en_US
dc.identifier.pmid25970554en_US
dc.identifier.scopus2-s2.0-84942991402en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage805en_US
dc.identifier.urihttps://doi.org/10.3109/09537104.2015.1041900
dc.identifier.urihttps://hdl.handle.net/20.500.12452/15669
dc.identifier.volume26en_US
dc.identifier.wosWOS:000369892400016en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofPlateletsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBudd-Chiari Syndromeen_US
dc.subjectEssential Thrombocythemiaen_US
dc.subjectMutationen_US
dc.titleEssential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndromeen_US
dc.typeArticleen_US

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