A Germline ETV6 Missense Variant in a Family With Thrombocytopenia and Leukemia Predisposition: A Case Report

Germline pathogenic variants in ETV6 are recognized as causes of inherited thrombocytopenia and leukemia predisposition. We report a family harboring a germline ETV6 variant, c.1072A>T (p.I358F), which has not been previously associated with this phenotype. Three family members exhibited chronic thrombocytopenia, and two had a history of acute lymphoblastic leukemia. The germline variant was located within the ETS DNA‐binding domain, where leukemia‐associated germline variants have been reported to cluster. This report underscores the need for careful family history assessment and long‐term follow‐up to identify hereditary leukemia predisposition syndromes and ensure appropriate genetic evaluation. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission.