ReviewJournal of hematology & oncology2014
Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.
Review in Journal of hematology & oncology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 31 citations in OpenAlex.
- Hemophagocytic Lymphohistiocytosis Triggered byClinical case reports · 2026Article
- Germline copy number variants in RUNX1: An updated case report and a decade-old red herring.BJC reports · 2025Article
- Decoding the Implications of Zinc in the Development and Therapy of Leukemia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Integrated genomic sequencing in myeloid blast crisis chronic myeloid leukemia (MBC-CML), identified potentially important findings in the context of leukemogenesis model.Scientific reports · 2022Article
- Article
- AberrantFrontiers in pediatrics · 2021Article
- Genome-Wide Association Analyses Identify Variants inFrontiers in genetics · 2021Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- Heterogeneity of GATA2-related myeloid neoplasms.International journal of hematology · 2017Review
- A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Journal of genetic counseling · 2017Review
- GATA factor mutations in hematologic disease.Blood · 2017Review
- Disease characteristics and prognosis of myelodysplastic syndrome presenting with isolated thrombocytopenia.International journal of hematology · 2017Article
- Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.Haematologica · 2016Article
- Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.Journal of hematology & oncology · 2015Article
- Article
- Haematopoietic and immune defects associated with GATA2 mutation.British journal of haematology · 2015Review
- Familial leukemias.Current treatment options in oncology · 2015Review
- GATA family transcriptional factors: emerging suspects in hematologic disorders.Experimental hematology & oncology · 2015Review
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence mutations in the second zinc finger domain of GATA2 gene (p.Thr358Lys, and p.Leu359Val), occurring in cis on the same allele. Given the patient's family history and clinical manifestation, this was interpreted as an acute myeloid leukemia with heritable GATA2 mutations associated with familial AML-MDS. Germline GATA2 mutations are involved in a group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema and propensity to acute myeloid leukemia or myelodysplastic syndrome (AML-MDS). Here we reported a case of familial AML-MDS with two novel GATA2 mutations. This case illustrates the importance of recognizing the clinical features for this rare category of AML-MDS and performing the appropriate molecular testing. The diagnosis of heritable gene mutations associated familial AML-MDS has significant clinical implication for the patients and affected families. Clinical trials are available to further investigate the role of allogeneic hematopoietic stem cell transplant in managing these patients.
Indexed as
Identifiers
What OpenQuestion holds
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.