title: Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.
abstract: Increased microvessel density contributes to abnormal BM and spleen microenvironment in myelofibrosis (MF). Taking advantage of the JAK2V617F mutation as a marker of malignancy, in the present study, we investigated whether splenic endothelial cells (ECs) obtained from capillaries by laser microdissection or from fresh spleen tissue by cell culture or cell sorting harbored such mutation in patients bearing the mutation in their granulocytes and undergoing splenectomy for therapeutical reasons. To extend the analysis to the ECs of large vessels, endothelial tissue from the splenic vein was also studied. We found JAK2V617F(+) ECs in 12 of 18 patients also bearing the mutation in their granulocytes. In 3 patients, the mutation was found in at least 2 different EC samples obtained by laser microdissection, cell culture, or cell sorting. The mutation was detected in the splenic vein ECs of 1 of 6 patients investigated. In conclusion, we provide evidence that some ECs from the spleen and splenic veins of patients with MF bear the JAK2V617F mutation. We suggest that splenic ECs are involved in the process of malignant transformation in MF.
authors.affiliation: Unit of Clinical Epidemiology and Center for the Study of Myelofibrosis, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo Foundation, Viale Golgi 19, Pavia, Italy. v.rosti@smatteo.pv.it
authors.forename: Vittorio
authors.initials: V
authors.lastname: Rosti
authors.forename: Laura
authors.initials: L
authors.lastname: Villani
authors.forename: Roberta
authors.initials: R
authors.lastname: Riboni
authors.forename: Valentina
authors.initials: V
authors.lastname: Poletto
authors.forename: Elisa
authors.initials: E
authors.lastname: Bonetti
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Tozzi
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bergamaschi
authors.forename: Paolo
authors.initials: P
authors.lastname: Catarsi
authors.forename: Elena
authors.initials: E
authors.lastname: Dallera
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Margherita
authors.initials: M
authors.lastname: Massa
authors.forename: Rita
authors.initials: R
authors.lastname: Campanelli
authors.forename: Gabriela
authors.initials: G
authors.lastname: Fois
authors.forename: Benedetta
authors.initials: B
authors.lastname: Peruzzi
authors.forename: Marco
authors.initials: M
authors.lastname: Lucioni
authors.forename: Paola
authors.initials: P
authors.lastname: Guglielmelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pancrazzi
authors.forename: Giacomo
authors.initials: G
authors.lastname: Fiandrino
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Umberto
authors.initials: U
authors.lastname: Magrini
authors.forename: Marco
authors.initials: M
authors.lastname: Paulli
authors.forename: Alessandro M
authors.initials: AM
authors.lastname: Vannucchi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Barosi
mesh_terms: D000368:Aged; D002469:Cell Separation; D055028:Comparative Genomic Hybridization; D042783:Endothelial Cells / Q000473:pathology*; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053614:Janus Kinase 2 / Q000235:genetics*; D061346:Laser Capture Microdissection; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055728:Primary Myelofibrosis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013154:Spleen / Q000473:pathology*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2