ArticleLeukemia & lymphoma2016
Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.
Article in Leukemia & lymphoma, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 2 of them syntheses that pooled it.
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
58 citing papers in PubMed, 2 syntheses or guidelines pooled it, 116 citations in OpenAlex.
- Donor-derived malignancy after allogeneic stem cell transplantation: a rare but well recognized complication.Bone marrow transplantation · 2025Pooled it
- Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.Annals of hematology · 2024Pooled it
- Trial
- Article
- Article
- Development and Validation of the PASS Score: A Simplified Tool to Diagnose Acquired Aplastic Anemia in Adults.Research square · 2026Article
- Familial Acute Promyelocytic Leukemia: A Case Report and Review of the Literature.OncoTargets and therapy · 2024Article
- Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms.Biomedicines · 2023Article
- How I diagnose myeloid neoplasms with germline predisposition.American journal of clinical pathology · 2023Article
- Current Landscape of Genome-Wide Association Studies in Acute Myeloid Leukemia: A Review.Cancers · 2023Review
- Are the current guidelines for identification of myelodysplastic syndrome with germline predisposition strong enough?British journal of haematology · 2023Article
- The Secondary Myelodysplastic Neoplasms (MDS) Jigsaw.Cancers · 2023Review
- Article
- Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.British journal of haematology · 2022Article
- Antitumor Activity and Mechanism of Action of the Antimicrobial Peptide AMP-17 on Human Leukemia K562 Cells.Molecules (Basel, Switzerland) · 2022Article
- Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice.The Journal of clinical investigation · 2022Article
- Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies-A Review.Cancers · 2022Review
- Role of Biomarkers in FLT3 AML.Cancers · 2022Review
- Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.Leukemia · 2022Article
- Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.American journal of hematology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia (AML). With the growing availability of clinical genetic testing, there is an increasing appreciation that a number of genetic predisposition syndromes may underlie apparent de novo presentations of MDS/AML, particularly in children and young adults. Recent findings of clonal hematopoiesis in acquired aplastic anemia add another facet to our understanding of the mechanisms of MDS/AML predisposition. As more predisposition syndromes are recognized, it is becoming increasingly important for hematologists and oncologists to have familiarity with the common as well as emerging syndromes, and to have a systematic approach to diagnosis and screening of at risk patient populations. Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes. Finally, we discuss recent data on the role of somatic mutations in malignant transformation in acquired aplastic anemia, and review the practical aspects of MDS/AML management in patients and families with predisposition syndromes.
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.