ArticleAmerican journal of hematology2016
Clonal hematopoiesis in patients with dyskeratosis congenita.
Article in American journal of hematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 60 citations in OpenAlex.
- Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ genomic medicine · 2026Article
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Adriamycin, Vinblastine and Dacarbazine With Immunotherapy Achieves Complete Metabolic Response in a Patient With Classical Hodgkin Lymphoma and Dyskeratosis Congenita.Journal of hematology · 2026Article
- Diagnosis and management of adult telomere biology disorders.Haematologica · 2026Review
- PUMA-induced apoptosis drives bone marrow failure and genomic instability in telomerase-deficient mice.Cell death and differentiation · 2026Article
- Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes.Internal medicine (Tokyo, Japan) · 2025Article
- ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.The Journal of clinical investigation · 2025Article
- Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.British journal of haematology · 2025Article
- Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.Blood · 2024Article
- Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.Haematologica · 2024Article
- Causes and consequences of clonal hematopoiesis.Blood · 2023Review
- Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023Review
- Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.Blood advances · 2023Article
- Molecular and clinical aspects relevant for counseling individuals with clonal hematopoiesis of indeterminate potential.Frontiers in oncology · 2023Review
- Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.Blood · 2022Article
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- Clonal hematopoiesis of indeterminate potential (CHIP): Linking somatic mutations, hematopoiesis, chronic inflammation and cardiovascular disease.Journal of molecular and cellular cardiology · 2021Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Dyskeratosis congenita (DC) is a rare inherited telomeropathy most frequently caused by mutations in a number of genes all thought to be involved in telomere maintenance. The main causes of mortality in DC are bone marrow failure as well as malignancies including leukemias and solid tumors. The clinical picture including the degree of bone marrow failure is highly variable and factors that contribute to this variability are poorly understood. Based on the recent finding of frequent clonal hematopoiesis in related bone marrow failure syndromes, we hypothesized that somatic mutations may also occur in DC and may contribute at least in part to the variability in blood production. To evaluate for the presence of clonal hematopoiesis in DC, we used a combination of X-inactivation, comparative whole exome sequencing (WES) and single nucleotide polymorphism array (SNP-A) analyses. We found that clonal hematopoiesis in DC is common, as suggested by skewed X-inactivation in 8 out of 9 female patients compared to 3 out of 10 controls, and by the finding of acquired copy neutral loss-of-heterozygosity on SNP-A analysis. In addition, 3 out of 6 independent DC patients were found to have acquired somatic changes in their bone marrow by WES, including a somatic reversion in DKC1, as well as missense mutations in other protein coding genes. Our results indicate that clonal hematopoiesis is a common feature of DC, and suggest that such somatic changes, though commonly expected to indicate malignancy, may lead to improved blood cell production or stem cell survival. Am. J. Hematol. 91:1227-1233, 2016. © 2016 Wiley Periodicals, Inc.
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