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Updated: Nov 11, 2025
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Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
Published on: August 14, 2017
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ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor
Yuri Kanamaru1, Toru Uchiyama2, Tadashi Kaname3
1Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
International Journal of Hematology
|March 26, 2021
Summary
ETV6-related thrombocytopenia, a genetic disorder causing low platelets and bleeding, can be mistaken for immune thrombocytopenia. Exome sequencing helps diagnose this condition and monitor for related cancers.
Area of Science:
- Genetics
- Hematology
Background:
- ETV6-related thrombocytopenia presents with bleeding and risk of hematological malignancies.
- Differentiating congenital from immune thrombocytopenia is clinically challenging due to overlapping symptoms.
Observation:
- A 5-year-old girl with chronic thrombocytopenia and severe epistaxis was initially suspected of having von Willebrand disease type 2 due to transiently low von Willebrand factor (VWF) levels.
- Subsequent tests showed normal VWF levels, prompting further genetic investigation.
Findings:
- Exome sequencing identified a germline ETV6 heterozygous variant (c.641C>T:p.(P214L)) as the cause of thrombocytopenia.
- No pathogenic variants were found in VWF or other known thrombocytopenia-related genes.
Implications:
- High-throughput exome sequencing is crucial for diagnosing ETV6-related thrombocytopenia.
- Accurate diagnosis aids in differentiating from immune thrombocytopenia and facilitates malignancy monitoring.
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