CASE REPORT article
Front. Hematol.
Sec. Gene Therapy, Cell Therapy and Hematology
Volume 4 - 2025 | doi: 10.3389/frhem.2025.1608314
Clinical characteristics and genetic analysis of a familial platelet disorder associated with RUNX1 gene mutation
Provisionally accepted
- Affiliated Changzhou Children’s Hospital of Nantong University, Jiangsu, China
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Objective To explore the clinical and genetic mutation characteristics of familial platelet disorder with acute myeloid leukemia tendency (FPD/AML) caused by RUNX1 germline mutations.The clinical data and gene mutation results of a child with FPD/AML and family members admitted to Changzhou Children's Hospital on September 8, 2022 were analyzed.Results A 1 year and 11 months male patient had recurrent thrombocytopenia for 1 year, with scattered bleeding points throughout the body. Blood routine tests showed thrombocytopenia, and peripheral blood smears and bone marrow cytology tests showed no significant abnormalities. The gene sequencing patient carried a frameshift mutation in RUNX1: c.494delG (p.G165Vf * 11).Sanger sequencing family verification shows that the mutation in the patient is inherited from their mother, and their grandmother has similar clinical symptoms.These findings expand the spectrum of RUNX1 variants linked to familial platelet disorders. The familial platelet disorder (FPD) associated with this gene is clinically rare and has the potential to undergo malignant transformation. Continuous monitoring of biological evolution is essential, and early intervention and treatment may be warranted.
Keywords: Thrombocytopenia, Runx1, FPD/AML, Frameshift Mutation, Sequencing
Received: 08 Apr 2025; Accepted: 28 May 2025.
Copyright: © 2025 Zhou, Zhao and Gu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jing Zhao, Affiliated Changzhou Children’s Hospital of Nantong University, Jiangsu, China
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