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