Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with budd-chiari syndrome and/or portal vein thrombosis

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dc.contributor.authorKarakose, Suleyman
dc.contributor.authorOruc, Nevin
dc.contributor.authorZengin, Melia
dc.contributor.authorAkarca, Ulus Salih
dc.contributor.authorErsoz, Galip
dc.date.accessioned2019-10-27T22:30:04Z
dc.date.available2019-10-27T22:30:04Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground/Aims: The diagnosis of an underlying myeloproliferative neoplasm (MPN) is often problematic in patients with Budd Chiari syndrome (BCS) or portal vein thrombosis (PVT). This study aimed to assess the diagnostic value of the JAK2 gene V617F gain-of-function mutation for MPN in splanchnic vein thrombosis patients. Materials and Methods: One hundred eleven patients (80 with PVT, 27 with BCS, and 4 with BCS and PVT) were investigated. The control group included 56 volunteers without any known diseases. LightCycler SNP genotyping was performed to detect the JAK2 V617F mutation in DNA extracted from peripheral blood. Results: The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049). Conclusion: The JAK2 V617F mutation is a noninvasive molecular marker for occult MPNs and can be used for the diagnosis of latent MPNs presenting with thrombotic events. Analysis of JAK2 mutation in the patients with idiopathic PVT or BCS showed that 20% had latent MPNs. In addition to this JAK2 mutation, prothrombotic events were observed in a significant number of patients with splanchnic vein thrombosis. JAK2 gene analysis should be included in the research panel for BCS and PVT patients without cirrhosis.en_US
dc.identifier.doi10.5152/tjg.2015.5738en_US
dc.identifier.endpage48en_US
dc.identifier.issn1300-4948
dc.identifier.issue1en_US
dc.identifier.pmid25698270en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage42en_US
dc.identifier.urihttps://doi.org/10.5152/tjg.2015.5738
dc.identifier.urihttps://hdl.handle.net/11454/51200
dc.identifier.volume26en_US
dc.identifier.wosWOS:000351642900009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAvesen_US
dc.relation.ispartofTurkish Journal of Gastroenterologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectJAK2 V617F mutationen_US
dc.subjectBudd Chiari syndromeen_US
dc.subjectportal vein thrombosisen_US
dc.subjectmyeloproliferative neoplasmsen_US
dc.titleDiagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with budd-chiari syndrome and/or portal vein thrombosisen_US
dc.typeArticleen_US

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