ReviewLeukemia2018
Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?
Review in Leukemia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Prognostic significance ofThe Journal of international medical research · 2020Pooled it
- Germ line landscape stratification defines distinct molecular and prognostic groups in therapy-related myeloid neoplasms.Blood advances · 2026Article
- [Diagnostic approaches and clinical relevance of hereditary hematological malignancies].Magyar onkologia · 2025Review
- Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.Haematologica · 2024Article
- Special Issue "Advances in Molecular Pathogenesis and Targeted Therapies for Myeloid Neoplasms".International journal of molecular sciences · 2024Article
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant inFrontiers in oncology · 2024Article
- Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.Blood advances · 2023Article
- Clinical considerations at the intersection of hematopoietic cell transplantation and hereditary hematopoietic malignancy.Frontiers in oncology · 2023Review
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling-a Singaporean experience.Frontiers in oncology · 2023Review
- Article
- Article
- Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.Human mutation · 2022Article
- AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome.Leukemia · 2022Article
- Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.Blood advances · 2022Article
- The Differential Expression of CD47 may be Related to the Pathogenesis From Myelodysplastic Syndromes to Acute Myeloid Leukemia.Frontiers in oncology · 2022Article
- Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.Haematologica · 2021Article
- Exosomes and Extracellular Vesicles in Myeloid Neoplasia: The Multiple and Complex Roles Played by These "Biology · 2021Review
- Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Comprehensive genomic profiling of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) cases have enabled the detection and differentiation of driver and subclonal mutations, informed risk prognostication, and defined targeted therapies. These insights into disease biology, and management have made multigene-acquired mutation testing a critical part of the diagnostic assessment of patients with sporadic MDS and AML. More recently, our understanding of the role of an increasing number of inherited genetic factors on MDS/AML risk and management has rapidly progressed. In recognition of the growing impact of this field, clinical guidelines and disease classification systems for both MDS and AML have recently incorporated familial MDS/AML predisposition syndromes into their diagnostic algorithms. In this perspective piece, we contemplate the advantages, disadvantages, and barriers that would need to be overcome to incorporate inherited MDS/AML genetic testing into the upfront molecular diagnostic work-up of every MDS/AML patient. For centers already performing panel-based tumor-only testing, including genes associated with familial forms of MDS/AML (e.g., RUNX1, CEBPA, GATA2, TP53), we advocate optimizing these tests to detect all types of germline variants in these genes and moving toward upfront paired tumor/germline testing to maximize detection and streamline patient care.
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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.