JAK2V617F mutation in patients with thrombosis: to screen or not to screen?
BACKGROUND
Thrombotic complications are a main concern in patients with myeloproliferative neoplasms. Recently, a gain-of-function mutation of the gene encoding the JAK2 tyrosine kinase that results in a valine-to-phenylalanine substitution at position 617 (V617F) has been described. Since the description of the JAK2-V617F mutation and its finding in patients with splanchnic vein thrombosis without an overt myeloproliferative neoplasm, many groups have studied the prevalence of this mutation in patients with unexplained venous and arterial thrombosis.


METHODS
A literature search was made using the key words thrombosis, JAK2V617F mutation, myeloproliferative neoplasms, cerebral vein thrombosis and splanchnic vein thrombosis.


RESULTS
JAK2V617F is frequent in patients with splanchnic vein thrombosis, but is rare in patients with venous thrombosis at other locations or with arterial thrombosis.


CONCLUSIONS
Routine testing for JAK2V617F is not currently recommended for patients with unexplained thromboses, except for those with splanchnic vein thrombosis. In patients with cerebral vein thrombosis, the value of testing for JAK2V617F mutation is yet to be established.
Department of Medical Propedeutics, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. sandraguerra@medicina.ufmg.br
S G
SG
Xavier
T
T
Gadelha
S M
SM
Rezende
I R
IR
Zalcberg
N
N
Spector
D002550:Cerebral Veins / Q000473:pathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000592:standards; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008642:Mesenteric Veins / Q000473:pathology; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000150:complications / Q000235:genetics; D013927:Thrombosis / Q000209:etiology / Q000235:genetics*
D053614:Janus Kinase 2