ArticleLeukemia research reports2015
Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome.
Article in Leukemia research reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Hematopoietic Cell Autonomous Disruption of Hematopoiesis in a Germline Loss-of-function Mouse Model ofHemaSphere · 2023Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- Zebrafish Cancer Predisposition Models.Frontiers in cell and developmental biology · 2021Review
- Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.Hematology/oncology clinics of North America · 2020Review
- RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.Blood advances · 2020Article
- Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.Haematologica · 2020Article
- ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.Blood advances · 2019Article
- C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.International journal of hematology · 2018Article
- Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.Haematologica · 2017Article
- Role of RUNX1 in hematological malignancies.Blood · 2017Review
- Bone Marrow Morphology Associated With GermlinePediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Here we report two new RUNX1 mutations in one patient with congenital thrombocytopenia that transformed into a high grade myelodysplastic syndrome with myelomonocytic features. The first mutation was a nucleotide base substitution from guanine to adenine within exon 8, resulting in a nonsense mutation in the DNA-binding inhibitory domain of the Runx1 protein. This nonsense mutation is suspected a de novo germline mutation since both parents are negative for the mutation. The second mutation identified was an in-frame six nucleotide base pair insertion in exon 5 of the RUNX1 gene, which is predicted to result in an insertion in the DNA-binding runt homology domain (RHD). This mutation is believed to be a somatic mutation as it was mosaic before allogeneic hematopoietic cell transplantation and disappeared after transplant. As no other genetic mutation was found using genetic screening, it is speculated that the combined effect of these two RUNX1 mutations may have exerted a stronger dominant negative effect than either RUNX1 mutation alone, thus leading to a myeloid malignancy.
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