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.
A mocking finding: portal cavernoma mimicking neoplastic mass. First sign of myeloproliferative disorder in a patient with Janus kinase2 V617F mutation
Galati G;Vespasiani Gentilucci U;Di Matteo FM;Zardi EM;Grasso RF;Avvisati G;Afeltra A;Picardi A
2009-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
