ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia, characterized by a bleeding tendency and predisposition to hematological malignancies. The similarity in symptoms makes differentiating immune and congenital thrombocytopenia challenging. We report a 5-year-old girl who presented with chronic thrombocytopenia associated with repetitive and long-lasting epistaxis, leading to blood transfusion for severe anemia. Blood tests showed thrombocytopenia (52 × 10³/µL) with normal-sized platelets and transiently low von Willebrand factor (VWF) levels (VWF:RCo 13%, VWF:Ag 50%); therefore, von Willebrand disease type 2 was initially suspected. Repetition of the blood tests revealed normal levels of VWF. Exome and Sanger sequencing identified a germline ETV6 heterozygous variant, c.641C > T:p.(P214L). No additional pathogenic variants were found, including VWF, in the gene panel testing of the 53 known target causative genes for thrombocytopenia. High-throughput exome sequencing for chronic thrombocytopenia can be utilized to differentially diagnose ETV6-related thrombocytopenia from chronic/intractable immune thrombocytopenia and to effectively monitor malignancy.