期刊
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
卷 31, 期 9, 页码 678-680出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0b013e3181b1ec9e
关键词
essential thrombocythemia; JAK2V617F; cerebral venous thrombosis; X-chromosome inactivation
资金
- Grants-in-Aid for Scientific Research [21390316] Funding Source: KAKEN
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.
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