A mocking finding: portal cavernoma mimicking neoplastic mass. First sign of myeloproliferative disorder in a patient with Janus kinase2 V617F mutation.
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.
Galati
Giovanni
G
Department of Clinical Medicine and Hepatology, GI Endoscopy Unit, University Campus Bio-Medico of Rome, Rome, Italy.
Gentilucci
Umberto Vespasiani
UV
Sansoni
Ilaria
I
Spataro
Sandro
S
Di Matteo
Francesco M
FM
Zardi
Enrico M
EM
Grasso
Rosario F
RF
Avvisati
Giuseppe
G
Afeltra
Antonella
A
Picardi
Antonio
A
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*
C507924:JAK2 protein, human; D053614:Janus Kinase 2