ArticleHaematologica2016
Twenty years of the Italian Fanconi Anemia Registry: where we stand and what remains to be learned.
Article in Haematologica, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- Genotoxic formaldehyde and lipid aldehydes are sources of DNA damage in keratinocytes.bioRxiv : the preprint server for biology · 2025Article
- A Novel Approach to Prognostic Factors and Risk Stratification in Pediatric AML: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- Fanconi anemia patients with head and neck squamous cell carcinoma - a multi-center study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Long-Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology-Oncology).American journal of hematology · 2025Article
- Comprehensive review on Fanconi anemia: insights into DNA interstrand cross-links, repair pathways, and associated tumors.Orphanet journal of rare diseases · 2025Review
- Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.Children (Basel, Switzerland) · 2025Article
- High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow.Cancers · 2025Article
- Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.American journal of hematology · 2025Observational
- Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.Frontiers in pediatrics · 2025Article
- Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia.Pediatric discovery · 2024Article
- Hematopoietic stem cell transplantation in patients with Fanconi anemia: a report of late effects and psychosocial adjustment in life.Bone marrow transplantation · 2024Article
- Management of Fanconi anemia beyond childhood.Hematology. American Society of Hematology. Education Program · 2023Review
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.Haematologica · 2023Article
- Tongue cancer following hematopoietic cell transplantation for Fanconi anemia.Clinical oral investigations · 2022Article
- Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.Frontiers in oncology · 2022Review
- Review
- Three Cases of Esophageal Cancer Related to Fanconi Anemia.Internal medicine (Tokyo, Japan) · 2021Article
- An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review).Biomedical reports · 2021Review
- Understanding the cellular origin and progression of esophageal cancer using esophageal organoids.Cancer letters · 2021Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The natural history of Fanconi anemia remains hard to establish because of its rarity and its heterogeneous clinical presentation; since 1994, the Italian Fanconi Anemia Registry has collected clinical, epidemiological and genetic data of Italian Fanconi Anemia patients. This registry includes 180 patients with a confirmed diagnosis of Fanconi anemia who have either been enrolled prospectively, at diagnosis, or later on. After enrollment, follow-up data were periodically collected to assess the clinical course, possible complications and long-term survival; the median follow up was 15.6 years. The main goal of the study was to describe the natural history of Fanconi anemia, focusing on the following variables: family history, disease presentation, development of hematological manifestations, development of malignancies, occurrence of hematopoietic stem cell transplantation and survival. Typical morphological and/or hematological abnormalities and/or growth retardation were the most common manifestations at diagnosis; the majority of patients (77%) exhibited hematological abnormalities at the initial presentation, and almost all (96%) eventually developed hematological manifestations. More than half of the patients (57%) underwent a bone-marrow transplant. The occurrence of cancer was quite rare at diagnosis, whereas the cumulative incidence of malignancies at 10, 20 and 30 years was 5%, 8% and 22%, respectively, for hematological cancers and 1%, 15% and 32%, respectively, for solid tumors. Overall survival at 10, 20 and 30 years were 88%, 56% and 37%, respectively; the main causes of death were cancer, complications of the hematological presentation and complications of transplantation. These data clearly confirm the detrimental outcome of Fanconi anemia, with no major improvement in the past decades.
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