ArticleLeukemia2018
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Article in Leukemia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- DNA methylation in primary myelofibrosis is partly associated with driver mutations and distinct from other myeloid malignancies.Clinical epigenetics · 2025Article
- ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.The Journal of clinical investigation · 2025Article
- Telomere Length Is Associated With Adverse Atrial Remodeling in Patients With Atrial Fibrillation.Journal of the American Heart Association · 2025Article
- Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.Blood · 2024Article
- Article
- Pediatric Germline Predisposition to Myeloid Neoplasms.Current hematologic malignancy reports · 2022Review
- Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies.HemaSphere · 2022Article
- Towards personalized medicine with iPS cell technology: a case report of advanced systemic mastocytosis with associated eosinophilia.Annals of hematology · 2022Article
- Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.Life (Basel, Switzerland) · 2021Review
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- Early and late stage MPN patients show distinct gene expression profiles in CD34Annals of hematology · 2021Article
- CALR frameshift mutations in MPN patient-derived iPSCs accelerate maturation of megakaryocytes.Stem cell reports · 2021Article
- Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.Orphanet journal of rare diseases · 2021Article
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.International journal of molecular sciences · 2021Review
- Review
- PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation.Clinical epigenetics · 2020Article
- Application of the Moran Model in Estimating Selection Coefficient of Mutated CSF3R Clones in the Evolution of Severe Congenital Neutropenia to Myeloid Neoplasia.Frontiers in physiology · 2020Article
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert review of hematology · 2019Review
- Stem cell persistence in CML is mediated by extrinsically activated JAK1-STAT3 signaling.Leukemia · 2019Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita (DKC) is a paradigmatic telomere disorder characterized by substantial and premature telomere shortening, bone marrow failure, and a dramatically increased risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). DKC can occur as a late-onset, so-called cryptic form, with first manifestation in adults. Somatic MDS-related mutations are found in up to 35% of patients with acquired aplastic anemia (AA), especially in patients with short telomeres. The aim of our study was to investigate whether cryptic DKC is associated with an increased incidence of MDS-related somatic mutations, thereby linking the accelerated telomere shortening with the increased risk of MDS/AML. Samples from 15 adult patients (median age: 42 years, range: 23-60 years) with molecularly confirmed cryptic DKC were screened using next-generation gene panel sequencing to detect MDS-related somatic variants. Only one of the 15 patients (7%) demonstrated a clinically relevant MDS-related somatic variant. This incidence was dramatically lower than formerly described in acquired AA. Based on our data, we conclude that clonal evolution of subclones carrying MDS-related mutations is not the predominant mechanism for MDS/AML initiation in adult cryptic DKC patients.
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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.