ArticleCancer genetics
Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia.
Article in Cancer genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 44 citations in OpenAlex.
- Evidence- and opinion-based consensus from Delphi round 1 of the Asian aplastic anemia recommendation development.International journal of hematology · 2026Article
- Somatic mutations in CSK disrupt immune regulation in a Chinese aplastic anemia cohort.Communications biology · 2026Article
- High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.Nature genetics · 2026Article
- Reframing-renaming(?)-myelodysplastic syndromes/neoplasms and clonal hematopoiesis of indeterminate potential.Leukemia · 2026Review
- Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.Blood advances · 2025Article
- Perioperative chemoimmunotherapy induces strong immune responses and long-term survival in patients with HLA class I-deficient non-small cell lung cancer.Journal for immunotherapy of cancer · 2024Article
- Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.British journal of haematology · 2024Article
- The state of the art in the treatment of severe aplastic anemia: immunotherapy and hematopoietic cell transplantation in children and adults.Frontiers in immunology · 2024Review
- When to consider inherited marrow failure syndromes in adults.Hematology. American Society of Hematology. Education Program · 2023Article
- Association between human leukocyte antigen and immunosuppressive treatment outcomes in Chinese patients with aplastic anemia.Frontiers in immunology · 2023Article
- Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicities.JCI insight · 2022Article
- Article
- Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.Blood · 2022Article
- The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure.Hematology. American Society of Hematology. Education Program · 2021Review
- [Study on the loss of HLA-A allele expression in patients with aplastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Article
- The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis.Blood advances · 2021Article
- Tumor Escape Phenotype in Bladder Cancer Is Associated with Loss of HLA Class I Expression, T-Cell Exclusion and Stromal Changes.International journal of molecular sciences · 2021Article
- A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia.Haematologica · 2021Article
- Article
- Acquired Aplastic Anemia as a Clonal Disorder of Hematopoietic Stem Cells.Stem cell reviews and reports · 2020Review
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Acquired aplastic anemia (aAA) results from the T cell-mediated autoimmune destruction of hematopoietic stem cells. Factors predicting response to immune suppression therapy (IST) or development of myelodysplastic syndrome (MDS) are beginning to be elucidated. Our recent data suggest most patients with aAA treated with IST develop clonal somatic genetic alterations in hematopoietic cells. One frequent acquired abnormality is copy-number neutral loss of heterozygosity on chromosome 6p (6p CN-LOH) involving the human leukocyte antigen (HLA) locus. We hypothesized that because 6p CN-LOH clones may arise from selective pressure to escape immune surveillance through deletion of HLA alleles, the development of 6p CN-LOH may affect response to IST. We used single nucleotide polymorphism array genotyping and targeted next-generation sequencing of HLA alleles to assess frequency of 6p CN-LOH, identity of HLA alleles lost through 6p CN-LOH, and impact of 6p CN-LOH on response to IST. 6p CN-LOH clones were present in 11.3% of patients, remained stable over time, and were not associated with development of MDS-defining cytogenetic abnormalities. Notably, no patient with 6p CN-LOH treated with IST achieved a complete response. In summary, clonal 6p CN-LOH in aAA defines a unique subgroup of patients that may provide insights into hematopoietic clonal evolution.
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