ArticleBlood2006
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH).
Article in Blood, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 153 citations in OpenAlex.
- Lifelong phylogenetic reconstruction of immune-mediated clonal trajectories in paroxysmal nocturnal hemoglobinuria.Leukemia · 2026Article
- Clonal expansion mechanisms in paroxysmal nocturnal hemoglobinuria.International journal of hematology · 2026Review
- PNH clones prevalence study in ph-negative myeloproliferative neoplasms: a multicenter Italian study.Annals of hematology · 2025Observational
- 3' UTR-truncated HMGA2 promotes erythroblasts production from human embryonic stem cells.Stem cells translational medicine · 2025Article
- Cellular carcinogenesis in preleukemic conditions:drivers and defenses.Fukushima journal of medical science · 2024Review
- Case 14: A 37-Year-Old Pregnant Woman With Thrombocytopenia.Journal of Korean medical science · 2023Article
- Paroxysmal Nocturnal Hemoglobinuria: Biology and Treatment.Medicina (Kaunas, Lithuania) · 2023Review
- Long noncoding RNA FAM157C contributes to clonal proliferation in paroxysmal nocturnal hemoglobinuria.Annals of hematology · 2023Article
- Case report: Immune pressure on hematopoietic stem cells can drastically expand glycosylphosphatidylinositol-deficient clones in paroxysmal nocturnal hemoglobinuria.Frontiers in immunology · 2023Article
- The spectrum of paroxysmal nocturnal hemoglobinuria clinical presentation in a Brazilian single referral center.Annals of hematology · 2022Article
- Managing Fatigue in Patients with Paroxysmal Nocturnal Hemoglobinuria: A Patient-Focused Perspective.Journal of blood medicine · 2022Review
- Article
- Pegcetacoplan: First Approval.Drugs · 2021Review
- 3' UTR-truncated HMGA2 overexpression induces non-malignantMolecular therapy. Methods & clinical development · 2021Article
- How I treat paroxysmal nocturnal hemoglobinuria.Blood · 2021Review
- Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q.Blood advances · 2020Article
- Article
- HMGA Proteins in Hematological Malignancies.Cancers · 2020Review
- Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency.The Journal of clinical investigation · 2019Article
- Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.The Journal of clinical investigation · 2019Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
Abstract
Somatic mutation of PIGA in hematopoietic stem cells causes deficiency of glycosyl phosphatidylinositol-anchored proteins in paroxysmal nocturnal hemoglobinuria (PNH) that underlies the intravascular hemolysis but does not account for expansion of the PNH clone. Immune mechanisms may mediate clonal selection but appear insufficient to account for the clonal dominance necessary for PNH to become clinically apparent. Herein, we report 2 patients with PNH whose PIGA-mutant cells had a concurrent, acquired rearrangement of chromosome 12. In both cases, der(12) had a break within the 3' untranslated region of HMGA2, the architectural transcription factor gene deregulated in many benign mesenchymal tumors, that caused ectopic expression of HMGA2 in the bone marrow. These observations suggest that aberrant HMGA2 expression, in concert with mutant PIGA, accounts for clonal hematopoiesis in these 2 patients and suggest the concept of PNH as a benign tumor of the bone marrow.
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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.