title: A mocking finding: portal cavernoma mimicking neoplastic mass. First sign of myeloproliferative disorder in a patient with Janus kinase2 V617F mutation.
abstract: The most important systemic etiological factors for portal thrombosis are the thrombophilic conditions associated with myeloproliferative disorders (MPDs), either clinically manifest or so-called 'occult'. Latest studies have revealed a strong association between MPDs and a somatic point mutation (V617F) of the tyrosine kinase Janus kinase2. The 'pseudo-cholangiocarcinoma sign' is a well described radiological finding related to portal cavernoma. We describe the case of a 48-year-old man, presenting with cavernomatous transformation of an extrahepatic thrombotic obstruction of the portal vein mimicking a neoplastic mass of the hepatic hilum, who did not present any other cause for thrombosis except for the V617F Janus kinase2 mutation, suggesting an underlying MPD.
authors.affiliation: Department of Clinical Medicine and Hepatology, GI Endoscopy Unit, University Campus Bio-Medico of Rome, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Galati
authors.forename: Umberto Vespasiani
authors.initials: UV
authors.lastname: Gentilucci
authors.forename: Ilaria
authors.initials: I
authors.lastname: Sansoni
authors.forename: Sandro
authors.initials: S
authors.lastname: Spataro
authors.forename: Francesco M
authors.initials: FM
authors.lastname: Di Matteo
authors.forename: Enrico M
authors.initials: EM
authors.lastname: Zardi
authors.forename: Rosario F
authors.initials: RF
authors.lastname: Grasso
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Avvisati
authors.forename: Antonella
authors.initials: A
authors.lastname: Afeltra
authors.forename: Antonio
authors.initials: A
authors.lastname: Picardi
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008113:Liver Neoplasms / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D011169:Portal Vein / Q000473:pathology*; D020246:Venous Thrombosis / Q000175:diagnosis*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2