ArticleHemaSphere2023
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.
Article in HemaSphere, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nature communications · 2026Article
- High serum ferritin is associated with genetic instability in myelodysplastic neoplasms.Journal of cancer research and clinical oncology · 2026Article
- The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.British journal of haematology · 2026Article
- Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis.BMJ case reports · 2026Article
- TeloNet is born: why all specialities need to be aware of telomere biology disorders.Frontiers in medicine · 2026Review
- Application of machine learning in the diagnostic work-up of telomere biology disorders.HemaSphere · 2026Article
- Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.Blood cancer journal · 2025Article
- Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.Blood advances · 2025Article
- Telomere Length Is Associated With Adverse Atrial Remodeling in Patients With Atrial Fibrillation.Journal of the American Heart Association · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Classical Haematology: Dynamic Development at the Interface of Transfusion Medicine and Haematology.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Article
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Generation of a conditional cellular senescence model using proximal tubule cells and fibroblasts from human kidneys.Cell death discovery · 2024Article
- Clinical manifestations of telomere biology disorders in adults.Hematology. American Society of Hematology. Education Program · 2023Review
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Authors and funding
24 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Telomere biology disorders (TBD) result from premature telomere shortening due to pathogenic germline variants in telomere maintenance-associated genes. In adults, TBD are characterized by mono/oligosymptomatic clinical manifestations (cryptic TBD) contributing to severe underdiagnosis. We present a prospective multi-institutional cohort study where telomere length (TL) screening was performed in either newly diagnosed patients with aplastic anemia (AA) or if TBD was clinically suspected by the treating physician. TL of 262 samples was measured via flow-fluorescence in situ hybridization (FISH). TL was considered suspicious once below the 10th percentile of normal individuals (standard screening) or if below 6.5 kb in patients >40 years (extended screening). In cases with shortened TL, next generation sequencing (NGS) for TBD-associated genes was performed. The patients referred fell into 6 different screening categories: (1) AA/paroxysmal nocturnal hemoglobinuria, (2) unexplained cytopenia, (3) dyskeratosis congenita, (4) myelodysplastic syndrome/acute myeloid leukemia, (5) interstitial lung disease, and (6) others. Overall, TL was found to be shortened in 120 patients (n = 86 standard and n = 34 extended screening). In 17 of the 76 (22.4%) standard patients with sufficient material for NGS, a pathogenic/likely pathogenic TBD-associated gene variant was identified. Variants of uncertain significance were detected in 17 of 76 (22.4%) standard and 6 of 29 (20.7%) extended screened patients. Expectedly, mutations were mainly found in
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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.