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Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera
Katie Stoops1, Sandeepkumar Kuril2
1College of Medicine.
Insights
This study details a rare pediatric case of Polycythemia Vera (PV) caused by a JAK2 exon 12 mutation. Ruxolitinib effectively treated the patient after other therapies failed, highlighting its potential for this rare PV subtype.
Area of Science:
- Hematology
- Genetics
- Pediatric Oncology
Background:
- Polycythemia Vera (PV) is a myeloproliferative neoplasm characterized by erythroid hyperproliferation.
- PV is typically associated with Janus Kinase 2 (JAK2) mutations, most commonly JAK2V617F.
- Complications include thromboembolic and hemorrhagic events.
Background:
Polycythemia Vera (PV) is a well-defined disorder of erythroid hyperproliferation that can result in life-threatening thromboembolic and hemorrhagic events. It is most prevalent in adults and is caused by mutations in Janus Kinase 2 (JAK2). Predominantly, PV is caused by a JAK2V617F mutation on exon 14.
Observations:
A rare case of PV in a 9-year-old, driven by an uncommon, p.Glu543_Asp544del, JAK2 exon 12 mutation. Despite management with phlebotomy, aspirin and hydroxyurea, the patient suffered a dural sinus venous thrombosis, prompting a change in therapy to Ruxolitinib.
Conclusions:
This is the first description of the successful use of ruxolitnib to treat a pediatric patient with PV caused by a JAK2 exon 12 mutation.
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