ArticleHaematologica2015
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Article in Haematologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed, 119 citations in OpenAlex.
- Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.Blood · 2015Trial
- Preemptive hematopoietic stem cell transplantation inHaematologica · 2026Article
- Germline DDX41 mutations in myeloid neoplasms: a comprehensive review.The Korean journal of internal medicine · 2026Review
- Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.Annals of hematology · 2025Article
- Repair mechanisms of bone system tissues based on comprehensive perspective of multi-omics.Cell biology and toxicology · 2025Review
- Article
- Genetic Characteristics of Patients with Young-Onset Myelodysplastic Neoplasms.Journal of clinical medicine · 2023Article
- GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.Current hematologic malignancy reports · 2023Review
- Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.The Journal of allergy and clinical immunology · 2023Article
- Article
- Review
- Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.Blood · 2022Article
- Review
- GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.British journal of haematology · 2022Review
- DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report.BMC pediatrics · 2022Article
- Article
- Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.Haematologica · 2022Article
- Genetics and genomics of bone marrow failure syndrome.Blood research · 2022Review
- Hematologic complications with age in Shwachman-Diamond syndrome.Blood advances · 2022Article
- Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.Frontiers in immunology · 2022Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
Accurate and timely diagnosis of inherited bone marrow failure and inherited myelodysplastic syndromes is essential to guide clinical management. Distinguishing inherited from acquired bone marrow failure/myelodysplastic syndrome poses a significant clinical challenge. At present, diagnostic genetic testing for inherited bone marrow failure/myelodysplastic syndrome is performed gene-by-gene, guided by clinical and laboratory evaluation. We hypothesized that standard clinically-directed genetic testing misses patients with cryptic or atypical presentations of inherited bone marrow failure/myelodysplastic syndrome. In order to screen simultaneously for mutations of all classes in bone marrow failure/myelodysplastic syndrome genes, we developed and validated a panel of 85 genes for targeted capture and multiplexed massively parallel sequencing. In patients with clinical diagnoses of Fanconi anemia, genomic analysis resolved subtype assignment, including those of patients with inconclusive complementation test results. Eight out of 71 patients with idiopathic bone marrow failure or myelodysplastic syndrome were found to harbor damaging germline mutations in GATA2, RUNX1, DKC1, or LIG4. All 8 of these patients lacked classical clinical stigmata or laboratory findings of these syndromes and only 4 had a family history suggestive of inherited disease. These results reflect the extensive genetic heterogeneity and phenotypic complexity of bone marrow failure/myelodysplastic syndrome phenotypes. This study supports the integration of broad unbiased genetic screening into the diagnostic workup of children and young adults with bone marrow failure and myelodysplastic syndromes.
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