Publication:
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome

dc.contributor.authorFiel, Maria Isabel
dc.contributor.authorSchiano, Thomas
dc.contributor.authorXu, Mingjiang
dc.contributor.authorMascarenhas, John
dc.contributor.authorHoffman, Ronald
dc.contributor.buuauthorSözer, Selçuk
dc.contributor.departmentTıp Fakültesi
dc.contributor.orcid0000-0002-5035-4048
dc.contributor.researcheridAAD-3877-2020
dc.contributor.scopusid16242795700
dc.date.accessioned2021-10-25T19:09:06Z
dc.date.available2021-10-25T19:09:06Z
dc.date.issued2009-05-21
dc.description.abstractPatients with myeloproliferative disorders are at a high risk of developing thrombotic events. Several investigators have hypothesized that endothelial cell (EC) abnormalities might contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thrombosis have been reported to be associated with JAK2V617F-positive hematopoiesis. We explored whether JAK2V617F was present in ECs in the vessels of polycythemia vera (PV) patients with BCS using laser capture microdissection followed by nested polymerase chain reaction or reverse-transcribed polymerase chain reaction. The ECs of the 2 BCS patients with PV were homozygous for the JAK2V617F and were shown to express transcripts characteristic of ECs but not hematopoietic cells. ECs of the other BCS patient with PV and 2 patients with hepatoportal sclerosis without PV contained exclusively wild-type JAK2. The presence of JAK2V617F in both ECs and hematopoietic cells belonging to BCS patients with PV indicate that ECs in PV are involved by the malignant process and that in a subpopulation of the patients the disease might originate from a common cell of origin for hematopoietic and ECs.
dc.description.sponsorshipMyeloproliferative Disorders Foundation
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) (1P01CA108671)
dc.description.sponsorshipUnited States Department of Defense
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Cancer Institute (NCI) (P01CA108671)
dc.identifier.citationSözer, S. vd. (2009). "The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome". Blood, 113(21), 5246-5249.
dc.identifier.endpage5249
dc.identifier.issn0006-4971
dc.identifier.issue21
dc.identifier.pubmed19293426
dc.identifier.scopus2-s2.0-67149133738
dc.identifier.startpage5246
dc.identifier.urihttps://doi.org/10.1182/blood-2008-11-191544
dc.identifier.urihttps://ashpublications.org/blood/article/113/21/5246/26297/The-presence-of-JAK2V617F-mutation-in-the-liver
dc.identifier.urihttp://hdl.handle.net/11452/22474
dc.identifier.volume113
dc.identifier.wos000266404500031
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherAmerican Society of Hematology
dc.relation.collaborationYurt dışı
dc.relation.journalBlood
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectProgenitor cells
dc.subjectPolycythemia-vera
dc.subjectStem-cell
dc.subjectJak2
dc.subjectV617f
dc.subjectHemangioblast
dc.subjectHematology
dc.subject.emtreeJanus kinase 2
dc.subject.emtreeAdult
dc.subject.emtreeAged
dc.subject.emtreeArticle
dc.subject.emtreeBudd Chiari syndrome
dc.subject.emtreeClinical article
dc.subject.emtreeEndothelium cell
dc.subject.emtreeFemale
dc.subject.emtreeGene mutation
dc.subject.emtreeHematopoiesis
dc.subject.emtreeHomozygosity
dc.subject.emtreeHuman
dc.subject.emtreeLaser capture microdissection
dc.subject.emtreeMale
dc.subject.emtreePolycythemia vera
dc.subject.emtreePolymerase chain reaction
dc.subject.emtreePortal vein thrombosis
dc.subject.emtreeRiority journal
dc.subject.emtreeReverse transcription polymerase chain reaction
dc.subject.emtreeBudd Chiari syndrome
dc.subject.emtreeEndothelium cell
dc.subject.emtreeEnzymology
dc.subject.emtreeGenetics
dc.subject.emtreeHematopoietic stem cell
dc.subject.emtreeHomozygote
dc.subject.emtreeLiver
dc.subject.emtreeMiddle aged
dc.subject.emtreeMissense mutation
dc.subject.emtreePathology
dc.subject.emtreeVascular endothelium
dc.subject.emtreeVascularization
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshBudd-chiari syndrome
dc.subject.meshEndothelial cells
dc.subject.meshEndothelium, vascular
dc.subject.meshFemale
dc.subject.meshHematopoietic stem cells
dc.subject.meshHomozygote
dc.subject.meshHumans
dc.subject.meshJanus kinase 2
dc.subject.meshLiver
dc.subject.meshMale
dc.subject.meshMiddle aged
dc.subject.meshMutation, missense
dc.subject.meshPolycythemia vera
dc.subject.meshReverse transcriptase polymerase chain reaction
dc.subject.scopusThrombocythemia; Primary Myelofibrosis; Polycythemia Vera
dc.subject.wosHematology
dc.titleThe presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome
dc.typeArticle
dc.wos.quartileQ1
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi
local.indexed.atScopus
local.indexed.atWOS

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