More than just mild thrombocytopenia: clinical clues in the diagnosis of germline predisposition to malignancy from a novel ETV6 variant

Abstract

Pathogenic variants in the ETS Variant Transcription Factor 6 ( ETV6) are associated with inherited thrombocytopenia with predisposition to hematologic malignancy. We report two young sisters who presented with mild thrombocytopenia and mild bleeding symptoms. Further family history led to suspicion of inherited etiology, and genetic sequencing revealed a novel ETV6 variant (c.1085A>G) of paternal origin. Collaboration between clinical and laboratory teams allowed resolution of variant classification to likely pathogenic. Our report demonstrates genetic testing for inherited thrombocytopenia should be considered for children with mild, variable, and non-specific bleeding symptoms.