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Published on: September 20, 2016
A Germline ETV6 Missense Variant in a Family With Thrombocytopenia and Leukemia Predisposition: A Case Report
Tomoko Waragai1, Yoshiko Nakano2, Kazuhiro Mochizuki1
1Department of Pediatric Oncology Fukushima Medical University Hospital Fukushima Japan.
Abstract:
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.
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