ArticleHaematologica2023
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Article in Haematologica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Successful allogeneic hematopoietic stem cell transplantation in children with myeloid malignancies secondary to GATA2 deficiency using decitabine-containing busulfan conditioning.Bone marrow transplantation · 2026Article
- [Clinical characteristics and prognosis of myelodysplastic neoplasms with GATA2 mutations].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- Review
- Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.British journal of haematology · 2026Article
- Article
- Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.Nature communications · 2025Article
- Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.Haematologica · 2025Review
- Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.Blood cancer journal · 2025Article
- Hematological phenotypes in GATA2 deficiency syndrome arise from aging, maladaptation to proliferation, and somatic events.Blood advances · 2025Article
- Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.British journal of haematology · 2025Article
- Article
- Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report.Journal of clinical immunology · 2025Article
- Emerging roles of cohesin-STAG2 in cancer.Oncogene · 2025Review
- GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.Blood cancer journal · 2025Article
- Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis.Frontiers in immunology · 2025Article
- Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.Blood · 2024Article
- Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.Molecular autism · 2024Article
- Malignant progression of preleukemic disorders.Blood · 2024Review
- Insights into the Molecular Mechanisms of Genetic Predisposition to Hematopoietic Malignancies: The Importance of Gene-Environment Interactions.Cancer discovery · 2024Article
Corrections and comments
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Authors and funding
26 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe clinical and biological features of 78 GATA2-deficient patients. Hematopoietic stem and progenitor cell phenotypic characterization revealed an exhaustion of myeloid progenitors. Somatic mutations in STAG2, ASXL1 and SETBP1 genes along with cytogenetic abnormalities (monosomy 7, trisomy 8, der(1;7)) occurred frequently in patients with GATA2 germline mutations. Patients were classified into three hematopoietic spectra based on bone marrow cytomorphology. No somatic additional mutations were detected in patients with normal bone marrow (spectrum 0), whereas clonal hematopoiesis mediated by STAG2 mutations was frequent in those with a hypocellular and/or myelodysplastic bone marrow without excess blasts (spectrum 1). Finally, SETBP1, RAS pathway and RUNX1 mutations were predominantly associated with leukemic transformation stage (spectrum 2), highlighting their implications in the transformation process. Specific somatic alterations, potentially providing distinct selective advantages to affected cells, are therefore associated with the clinical/hematological evolution of GATA2 syndrome. Our study not only suggests that somatic genetic profiling will help clinicians in their management of patients, but will also clarify the mechanism of leukemogenesis in the context of germline GATA2 mutations.
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