ArticleHaematologica2009
Diagnosis of Fanconi anemia in patients with bone marrow failure.
Article in Haematologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 91 citations in OpenAlex.
- Fanconi Anemia in a Young Adult Male Presenting with Pancytopenia and Bilateral Ectopic Kidneys.Annals of African medicine · 2026Article
- Recursive Partitioning to Differentiate Acquired From Inherited Bone Marrow Failure Syndromes.American journal of hematology · 2025Article
- Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.The Journal of clinical investigation · 2025Article
- Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.Genetics in medicine open · 2025Article
- Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report.Clinical case reports · 2024Article
- A clickable melphalan for monitoring DNA interstrand crosslink accumulation and detecting ICL repair defects in Fanconi anemia patient cells.Nucleic acids research · 2023Article
- Article
- Correction of Fanconi Anemia Mutations Using Digital Genome Engineering.International journal of molecular sciences · 2022Article
- Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.Human mutation · 2022Article
- Clinical consequences of BRCA2 hypomorphism.NPJ breast cancer · 2021Article
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Chromosomal Breakage in Fanconi Anemia and Consanguineous Marriages: A Social Dilemma for Developing Countries.Cureus · 2020Article
- Spontaneous and Radiation-Induced Chromosome Aberrations in Primary Fibroblasts of Patients With Pediatric First and Second Neoplasms.Frontiers in oncology · 2020Article
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
- A recurrent clonally distinct Burkitt lymphoma case highlights genetic key events contributing to oncogenesis.Genes, chromosomes & cancer · 2019Article
- A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.BMC medical genetics · 2019Article
- Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.Frontiers in oncology · 2019Article
- Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.F1000Research · 2018Review
- Recent advances in understanding hematopoiesis in Fanconi Anemia.F1000Research · 2018Review
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia diagnosis can be difficult to make, and diagnostic strategies combining different assays in addition to classical breakage tests in blood may be needed. DESIGN AND
methodsWe evaluated Fanconi anemia diagnosis on blood lymphocytes and skin fibroblasts from a cohort of 87 bone marrow failure patients (55 children and 32 adults) with no obvious full clinical picture of Fanconi anemia, by performing a combination of chromosomal breakage tests, FANCD2-monoubiquitination assays, a new flow cytometry-based mitomycin C sensitivity test in fibroblasts, and, when Fanconi anemia was diagnosed, complementation group and mutation analyses. The mitomycin C sensitivity test in fibroblasts was validated on control Fanconi anemia and non-Fanconi anemia samples, including other chromosomal instability disorders.
resultsWhen this diagnosis strategy was applied to the cohort of bone marrow failure patients, 7 Fanconi anemia patients were found (3 children and 4 adults). Classical chromosomal breakage tests in blood detected 4, but analyses on fibroblasts were necessary to diagnose 3 more patients with hematopoietic somatic mosaicism. Importantly, Fanconi anemia was excluded in all the other patients who were fully evaluated.
conclusionsIn this large cohort of patients with bone marrow failure our results confirmed that when any clinical/biological suspicion of Fanconi anemia remains after chromosome breakage tests in blood, based on physical examination, history or inconclusive results, then further evaluation including fibroblast analysis should be made. For that purpose, the flow-based mitomycin C sensitivity test here described proved to be a reliable alternative method to evaluate Fanconi anemia phenotype in fibroblasts. This global strategy allowed early and accurate confirmation or rejection of Fanconi anemia diagnosis with immediate clinical impact for those who underwent hematopoietic stem cell transplant.
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