A Germline ETV6 Missense Variant in a Family With Thrombocytopenia and Leukemia Predisposition: A Case Report
- 1Department of Pediatric Oncology Fukushima Medical University Hospital Fukushima Japan
- 2Department of Pediatrics The University of Tokyo Hospital Tokyo Japan
Abstract
Germline pathogenic variants in ETV6 are recognized as causes of inherited thrombocytopenia and leukemia predisposition. We report a family harboring a germline ETV6 variant, c.1072A>T (p.I358F), which has not been previously associated with this phenotype. Three family members exhibited chronic thrombocytopenia, and two had a history of acute lymphoblastic leukemia. The germline variant was located within the ETS DNA‐binding domain, where leukemia‐associated germline variants have been reported to cluster. This report underscores the need for careful family history assessment and long‐term follow‐up to identify hereditary leukemia predisposition syndromes and ensure appropriate genetic evaluation. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission.
Related
- Elevated Allele Frequency of a Common Germline PDCD1 Variant Associated with Leukocytosis and Thrombocytopenia in Acute Myeloid Leukemia Treated with HDCT/ASCT
- A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report
- A common germline 3′ UTR variant controls DDIT4 translation efficiency and stress responses in cancer cells
- Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact
- Incidental MSH6 Germline Pathogenic Variant Identified through Tumor-only Comprehensive Genomic Profiling in a Patient with Small Cell Lung Cancer
BibTeX
@article{waragai2026germline,
title = {{A Germline ETV6 Missense Variant in a Family With Thrombocytopenia and Leukemia Predisposition: A Case Report}},
author = {Tomoko Waragai and Yoshiko Nakano and Kazuhiro Mochizuki and Atsushi Kikuta and Mitsuko Akaihata and Nobuhisa Takahashi and Shingo Kudo and Yui Sasaki and Motohiro Kato and Hideki Sano},
journal = {eJHaem},
year = {2026},
month = oct,
doi = {10.1002/jha2.70386},
url = {https://doi.org/10.1002/jha2.70386},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Germline ETV6 Missense Variant in a Family With Thrombocytopenia and Leukemia Predisposition: A Case Report
AU - Tomoko Waragai
AU - Yoshiko Nakano
AU - Kazuhiro Mochizuki
AU - Atsushi Kikuta
AU - Mitsuko Akaihata
AU - Nobuhisa Takahashi
AU - Shingo Kudo
AU - Yui Sasaki
AU - Motohiro Kato
AU - Hideki Sano
PY - 2026
DA - 2026/10/27
JO - eJHaem
DO - 10.1002/jha2.70386
UR - https://doi.org/10.1002/jha2.70386
AB - Germline pathogenic variants in ETV6 are recognized as causes of inherited thrombocytopenia and leukemia predisposition. We report a family harboring a germline ETV6 variant, c.1072A>T (p.I358F), which has not been previously associated with this phenotype. Three family members exhibited chronic thrombocytopenia, and two had a history of acute lymphoblastic leukemia. The germline variant was located within the ETS DNA‐binding domain, where leukemia‐associated germline variants have been reported to cluster. This report underscores the need for careful family history assessment and long‐term follow‐up to identify hereditary leukemia predisposition syndromes and ensure appropriate genetic evaluation. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission.
SN - 2688-6146
ER -