학술논문
More than just mild thrombocytopenia: Clinical clues in the diagnosis of germline predisposition to malignancy from a rare ETV6 variant.
Document Type
Case Study
Source
Subject
*THROMBOCYTOPENIA
*GERM cells
*HEMATOLOGIC malignancies
*GENETIC testing
*TRANSCRIPTION factors
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Language
ISSN
2050-0904
Abstract
Key Clinical Message: In the evaluation of patients with longstanding mild thrombocytopenia, emphasis on family history, genetic testing, and collaborative clinical and laboratory‐based family studies can ensure proper diagnosis and monitoring for malignancies. We report the diagnostic approach to mild and non‐specific thrombocytopenia with unclear genetic findings in two sisters. Genetic sequencing revealed a rare 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. [ABSTRACT FROM AUTHOR]