JAK2V617F Mutation-positive Childhood Essential Thrombocythemia Associated With Cerebral Venous Sinus Thrombosis

Abstract

Myeloproliferative diseases (MPDs) in childhood are quite rare. Although pediatric and adult MPDs exhibit similar hematologic findings, JAK2V617F mutations and clonality status of MPDs in the DNA of neutrophils are evaluated less frequently in children than in adults. Increased incidence of venous thrombosis at uncommon sites is associated with JAK2V617F mutation in MPDs and thrombotic complications are more common in essential thrombocythemia (ET). Here, we describe 6-year-old girl with clonal myelopoiesis and JAK2V617F-positive ET associated with cerebral venous sinus thrombosis. To our knowledge, this is the first report of pediatric monoclonal and JAK2V617F-positive ET with cerebral venous sinus thrombosis.

Venous thromboembolism in patients with essential thrombocythemia and polycythemia vera

“…Of special interest are thromboses in the splanchnic veins, 69 cerebral sinus venous thrombosis, 70,71 thrombosis of vena cava 72 and even intraventricular thrombosis. 73 Thromboses in the splanchnic veins are associated with high rates of morbidity and mortality and can sometimes involve the intrahepatic veins, causing Budd -Chiari syndrome.…”

Cerebral venous sinus thrombosis as the initial presentation of essential thrombocythemia - A case report and literature review

“…Nine studies were excluded after screening the titles. Abstracts were reviewed for seven articles, and one more article was removed as it was not relevant [ 3 , [9] , [10] , [11] , [12] , [13] ]. Clinical characteristics, management, and outcomes of the reported cases of CVST secondary to ET are summarized in Table 2 which also summarizes our case in the last row.…”

“…Aspirin monotherapy is used in low and intermediate-risk diseases without cardiovascular risk factors. Patients with CVST associated ET are considered to have high-risk disease irrespective of their age [ 3 , 12 ]. Hydroxyurea is the drug of choice for cytoreduction.…”

“…The mainstay of treatment of CVST associated ET is anticoagulation, initially with intravenous heparin or oral warfarin, then later on with long-term low-dose aspirin, and cytoreduction with hydroxyurea (HU) [ 3 , 10 , 11 , 12 ]. The overall prognosis remains good with anticoagulation and cytoreduction.…”

“…We report a 37-year-old presenting with CVST and was later found to have underlying ET. The case is accompanied by a literature review of the previously reported cases on the topic [ 3 , [9] , [10] , [11] , [12] , [13] ].…”