ArticleExperimental hematology & oncology2022
Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution.
Article in Experimental hematology & oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Article
- Case of Myelodysplastic Syndrome 15 Years After Kidney Transplantation Under Long-Term Immunosuppression.Case reports in hematology · 2026Article
- High Burden of Non-Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow.Cancers · 2025Article
- Clonal composition of karyotypically normal AML at diagnosis is not affected by the microenvironment.Blood neoplasia · 2025Article
- Genetic and Clinical Progression of MYSM1 Related Bone Marrow Failure into Myeloid Malignancies: Case Series and Review of Literature.Clinical hematology international · 2025Article
- Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia.Cancer reports (Hoboken, N.J.) · 2024Article
- Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation.iScience · 2024Article
- Recent Advances towards the Understanding of Secondary Acute Myeloid Leukemia Progression.Life (Basel, Switzerland) · 2024Review
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundFanconi anemia (FA) is a rare disease of bone marrow failure. FA patients are prone to develop myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). However, the molecular clonal evolution of the progression from FA to MDS/AML remains elusive.
methodsHerein, we performed a comprehensive genomic analysis using an FA patient (P1001) sample that transformed to MDS and subsequently AML, together with other three FA patient samples at the MDS stage.
resultsOur finding showed the existence of polyclonal pattern in these cases at MDS stage. The clonal evolution analysis of FA case (P1001) showed the mutations of UBASH3A, SF3B1, RUNX1 and ASXL1 gradually appeared at the later stage of MDS, while the IDH2 alteration become the dominant clone at the leukemia stage. Moreover, single-cell sequencing analyses further demonstrated a polyclonal pattern was present at either MDS or AML stages, whereas IDH2 mutated cell clones appeared only at the leukemia stage.
conclusionsWe thus propose a clonal evolution model from FA to MDS and AML for this patient. The results of our study on the clonal evolution and mutated genes of the progression of FA to AML are conducive to understanding the progression of the disease that still perplexes us.
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