More than just mild thrombocytopenia: clinical clues in the diagnosis of
germline predisposition to malignancy from a novel ETV6 variant
- Shannon Fang
, - Juliana Perez Botero,
- Lisa Hackney
Shannon Fang
Case Western Reserve University School of Medicine
Author ProfileJuliana Perez Botero
Versiti Blood Research Institute Milwaukee
Author ProfileAbstract
We report the diagnostic approach to mild and non-specific
thrombocytopenia with unclear genetic findings in two sisters. Genetic
sequencing revealed a novel variant in ETS Variant Transcription Factor
6, which is associated with inherited thrombocytopenia with
predisposition to hematologic malignancy. Familial studies provided
sufficient evidence for a likely pathogenic classification.30 Nov 2022Submitted to Clinical Case Reports 01 Dec 2022Submission Checks Completed
01 Dec 2022Assigned to Editor
19 Dec 2022Reviewer(s) Assigned
06 Jan 2023Review(s) Completed, Editorial Evaluation Pending
14 Feb 2023Editorial Decision: Revise Major
10 Mar 20231st Revision Received
16 Mar 2023Submission Checks Completed
16 Mar 2023Assigned to Editor
16 Mar 2023Review(s) Completed, Editorial Evaluation Pending
12 Apr 2023Editorial Decision: Accept
