Related Experiment Video
Updated: Apr 30, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
GATA2 Mutations Predict Poor Prognosis in Transplanted Myeloid Neoplasms
Xian Zhang1, Bingjie Wang1, Yujun Dong1
1Department of Hematology, Peking University First Hospital, Beijing, China.
Background:
GATA binding protein 2 (GATA2) plays a crucial role in the differentiation, proliferation, and maintenance of hematopoietic stem cells (HSCs). GATA2 mutations have been identified in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), but the impact of somatic GATA2 mutations on prognosis remains controversial, especially on patients who undergo allogeneic hematopoietic stem cell transplantation (allo-HSCT).
Objectives:
The aim of this retrospective case-control study was to explore the prognostic significance of somatic GATA2 mutations in MDS/AML patients who underwent allo-HSCT.
Study Design:
Propensity score matching (PSM) analysis was used to match patients with wild-type GATA2 as the control group (ratio 1:3). A total of 14 patients with somatic GATA2 mutations and 39 patients with wild-type GATA2 were enrolled.
Results:
The baseline characteristics were comparable between the two groups. However, patients with GATA2 mutations had a higher frequency of WT1 mutations and relapse rate (p = 0.036 and p = 0.008, respectively). Compared to patients with wild-type GATA2, patients with GATA2 mutations had shorter progression-free survival (PFS) and overall survival (OS), and post-transplant PFS (p < 0.001, p = 0.030, and p = 0.004, respectively). Subgroup analysis showed that the PFS, OS, post-transplant PFS, and OS of patients with GATA2 non-zinc finger domain 1 (non-ZF1) mutations (p < 0.001, p = 0.004, p < 0.001, and p = 0.049, respectively), but not those of patients with somatic GATA2 ZF1 mutations, were shorter than that of patients with wild-type GATA2. Moreover, somatic GATA2 mutations and WBC count ≥ 20.86 × 109/L were independent adverse prognostic factors for PFS (p = 0.005 and p = 0.020, respectively). Relapse before transplantation was an independent adverse prognostic factor for OS (p = 0.009).
Conclusions:
Our preliminary study revealed that somatic GATA2 mutations, especially non-ZF1 mutations, may be associated with unfavorable outcomes in patients with MDS/AML, even for patients who underwent allo-HSCT.
More Related Videos
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
Related Concept Videos
The Ras Gene
Ras is a...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...