1 Introduction
Thrombocytopenia can be the first indication of an underlying condition
in children and includes a wide range of differential diagnoses.
Inherited thrombocytopenias are a heterogenous group of disorders with
low platelet counts, with or without platelet dysfunction. With
increasing access to genetic testing, the number of genes associated
with this phenotype and number of patients diagnosed continues to
grow1 . Over 50 genes have been described to be
associated with inherited thrombocytopenia and an estimated 2.7% are
from disease-causing variants in ETS Variant Transcription Factor 6
(ETV6)1,2. ETV6 is a transcription repressor in
the ETS family of transcription factors, and it is implicated in normal
hematopoiesis, thrombopoiesis, and platelet
function3,4. Distinguishing ETV6 -related
thrombocytopenia (ETV6 -RT) from other etiologies is important,
given its associated risk of malignancy2-4, and
requires genetic testing for diagnostic confirmation. This report
describes the diagnostic approach and clinical challenges in a family
with inherited thrombocytopenia that was found to carry a novel
disease-causing ETV6 variant.