Jak2 mutation expands the thrombophilic panel in children

Area of Science:

• Pediatric Neurology
• Hematology
• Genetics

Background:

• Cerebral sinus venous thrombosis (CSVT) is a significant cause of cerebrovascular events in children.
• While risk factors can be identified and managed, the etiology of CSVT remains unknown in 20-25% of pediatric cases.
• Myeloproliferative neoplasms (MPNs) are associated with JAK2 mutations, but CSVT can occur without overt MPN diagnosis.

Observation:

• This report details the first pediatric case of CSVT associated with the Janus Kinase 2 (JAK2) V617F mutation.
• The mutation was present without overt hematological abnormalities indicative of myeloproliferative neoplasms.

Findings:

• The JAK2 V617F mutation can be an underlying cause of CSVT in children, even in the absence of myeloproliferative neoplasms.
• Molecular analysis of the JAK2 gene identified the causative factor in this pediatric CSVT case.

Implications:

• Routine JAK2 gene mutation screening in the coagulation panel is recommended for children with unexplained CSVT.
• This approach may improve the diagnostic yield for pediatric CSVT and guide targeted therapies.
• Early identification of genetic predispositions can inform long-term management strategies for pediatric vascular diseases.