ArticleScientific reports2020
Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis.
Article in Scientific reports, 2020. 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, 27 citations in OpenAlex.
- Somatic mutations and genome mosaicism in aging and disease.Experimental & molecular medicine · 2026Review
- Posttransplantation clonal dynamics of hematopoietic stem cells carrying prenatal and early-lifeHemaSphere · 2025Article
- Perspectives on the origin and therapeutic opportunities in Down syndrome-associated leukemia.Cancer metastasis reviews · 2025Review
- Article
- CLEMENT: genomic decomposition and reconstruction of non-tumor subclones.Nucleic acids research · 2024Article
- Down syndrome-associated leukaemias: current evidence and challenges.Therapeutic advances in hematology · 2024Review
- Stem cell mutations, associated cancer risk, and consequences for regenerative medicine.Cell stem cell · 2023Review
- Hematologic Neoplasms Associated with Down Syndrome: Cellular and Molecular Heterogeneity of the Diseases.International journal of molecular sciences · 2023Article
- Mutation accumulation in mtDNA of cancers resembles mutagenesis in normal stem cells.iScience · 2022Article
- Game of clones: Battles in the field of carcinogenesis.Pharmacology & therapeutics · 2022Review
- Elevated Mutational Age in Blood of Children Treated for Cancer Contributes to Therapy-Related Myeloid Neoplasms.Cancer discovery · 2022Article
- Quantitative analysis of redox proteome reveals oxidation-sensitive protein thiols acting in fundamental processes of developmental hematopoiesis.Redox biology · 2022Article
- Human induced pluripotent stem cells display a similar mutation burden as embryonic pluripotent cellsiScience · 2022Article
- SomaMutDB: a database of somatic mutations in normal human tissues.Nucleic acids research · 2022Article
- Clonal Hematopoiesis: Role in Hematologic and Non-Hematologic Malignancies.Mediterranean journal of hematology and infectious diseases · 2022Review
- Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients.Cell stem cell · 2021Article
- Mutation signatures of pediatric acute myeloid leukemia and normal blood progenitors associated with differential patient outcomes.Blood cancer discovery · 2021Article
- Increased risk of leukaemia in children with Down syndrome: a somatic evolutionary view.Expert reviews in molecular medicine · 2021Article
- Clonal expansion in non-cancer tissues.Nature reviews. Cancer · 2021Review
- Aneuploidy as a promoter and suppressor of malignant growth.Nature reviews. Cancer · 2021Review
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Children show a higher incidence of leukemia compared to young adolescents, yet their cells have less age-related (oncogenic) somatic mutations. Newborns with Down syndrome have an even higher risk of developing leukemia, which is thought to be driven by mutations that accumulate during fetal development. To characterize mutation accumulation in individual stem and progenitor cells of Down syndrome and karyotypically normal fetuses, we clonally expanded single cells and performed whole-genome sequencing. We found a higher mutation rate in haematopoietic stem and progenitor cells during fetal development compared to the post-infant rate. In fetal trisomy 21 cells the number of somatic mutations is even further increased, which was already apparent during the first cell divisions of embryogenesis before gastrulation. The number and types of mutations in fetal trisomy 21 haematopoietic stem and progenitor cells were similar to those in Down syndrome-associated myeloid preleukemia and could be attributed to mutational processes that were active during normal fetal haematopoiesis. Finally, we found that the contribution of early embryonic cells to human fetal tissues can vary considerably between individuals. The increased mutation rates found in this study, may contribute to the increased risk of leukemia early during life and the higher incidence of leukemia in Down syndrome.
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