Trial reportHaematologica2014
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
Trial report in Haematologica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 4 registered trials, which are not on this map. Cited by 79 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Analysis of Immune Disorders
Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections
Screening Protocol for Detection and Characterization of Infections and Infection Susceptibility
Pilot and Feasibility Study of Reduced-Intensity Hematopoietic Stem Cell Transplant for Patients With GATA2 Mutations
Who cites it
79 citing papers in PubMed, 136 citations in OpenAlex.
- Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.Blood · 2015Trial
- Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2014Trial
- Measurable residual disease testing in acute myeloid leukemia: current state, foundational models, and tools for future development.Cancer metastasis reviews · 2026Review
- Leukemic Transdifferentiation: From Pathological Plasticity to Dendritic Cell-Based Immunotherapy.Biomedicines · 2025Review
- Article
- Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.Haematologica · 2025Review
- ASXL1 mutation-related clonal hematopoiesis and age-related diseases: clinical evidence and molecular insights.International journal of hematology · 2025Review
- Impaired DNA damage responses and inflammatory signaling underpin hematopoietic stem cell defects in Gata2 haploinsufficiency.Stem cell reports · 2025Article
- Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.Blood cancer journal · 2025Article
- Insights into PediatricBiomedicines · 2025Review
- Article
- Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.HemaSphere · 2024Article
- Malignant progression of preleukemic disorders.Blood · 2024Review
- A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.Journal of clinical immunology · 2023Article
- A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.Blood advances · 2023Article
- GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.Current hematologic malignancy reports · 2023Review
- The spectrum of GATA2 deficiency syndrome.Blood · 2023Article
- Nature and nurture: understanding phenotypic variation in inborn errors of immunity.Frontiers in cellular and infection microbiology · 2023Review
- GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.British journal of haematology · 2022Review
- ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome.Blood advances · 2022Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Inherited or sporadic heterozygous mutations in the transcription factor GATA2 lead to a clinical syndrome characterized by non-tuberculous mycobacterial and other opportunistic infections, a severe deficiency in monocytes, B cells and natural killer cells, and progression from a hypocellular myelodysplastic syndrome to myeloid leukemias. To identify acquired somatic mutations associated with myeloid transformation in patients with GATA2 mutations, we sequenced the region of the ASXL1 gene previously associated with transformation from myelodysplasia to myeloid leukemia. Somatic, heterozygous ASXL1 mutations were identified in 14/48 (29%) of patients with GATA2 deficiency, including four out of five patients who developed a proliferative chronic myelomonocytic leukemia. Although patients with GATA2 mutations had a similarly high incidence of myeloid transformation when compared to previously described patients with ASXL1 mutations, GATA2 deficiency patients with acquired ASXL1 mutation were considerably younger, almost exclusively female, and had a high incidence of transformation to a proliferative chronic myelomonocytic leukemia. These patients may benefit from allogeneic hematopoietic stem cell transplantation before the development of acute myeloid leukemia or chronic myelomonocytic leukemia. (ClinicalTrials.gov identifier NCT00018044, NCT00404560, NCT00001467, NCT00923364.).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.