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Jak2 mutation expands the thrombophilic panel in children
Author(s) -
Forest Cristina,
Gallo Paola,
Fumarola Adriana,
Burnelli Roberta,
Suppiej Agnese
Publication year - 2020
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/jth.14999
Subject(s) - etiology , medicine , janus kinase 2 , mutation , disease , pediatrics , pathology , genetics , gene , biology , receptor
Cerebral sinus venous thrombosis (CSVT) is an important cause of vascular accidents in children. The diagnosis of the underlying disease allows appropriate and timely management of the risk factors and guide therapy, but the etiology remains unknown in 20% to 25% of the cases. We present the first case of a child presenting with CSVT caused by the Janus Kinase 2 (JAK2) V617F mutation, occurring without the hematological abnormalities diagnostic for myeloproliferative neoplasms. We therefore suggest including the molecular study of the JAK2 gene in the coagulation panel of all children affected by CSVT of unknown cause.