Jak2 mutation expands the thrombophilic panel in children

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 c...

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Bibliographic Details
Published in:	Journal of thrombosis and haemostasis Vol. 18; no. 10; pp. 2636 - 2639
Main Authors:	Forest, Cristina, Gallo, Paola, Fumarola, Adriana, Burnelli, Roberta, Suppiej, Agnese
Format:	Journal Article
Language:	English
Published:	England Elsevier Limited 01-10-2020
Subjects:	Child Children coagulation Etiology Humans Janus kinase Janus kinase 2 Janus Kinase 2 - genetics Mutation Myeloproliferative Disorders - genetics myeloproliferative neoplasms pediatric Risk Factors Thrombophilia Thrombosis venous sinus thrombosis myeloproliferative neoplasms thrombophilia coagulation venous sinus thrombosis pediatric
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Summary:	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.
Bibliography:	: Manuscript handled by: David Lillicrap Final decision: David Lillicrap and 02‐Jul‐2020 Table of Contents Summary This first case of pediatric cerebral sinus venous thrombosis caused by JAK2 V617F mutation, without myeloproliferative neoplasm criteria, expands the thrombosis diagnostic panel for children.
ISSN:	1538-7933 1538-7836 1538-7836
DOI:	10.1111/jth.14999