ArticleCancer cell2012
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia.
Article in Cancer cell, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 1 of them a synthesis that pooled it.
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Who cites it
154 citing papers in PubMed, 1 synthesis or guideline pooled it, 273 citations in OpenAlex.
- Molecular Landscape of Acute Myeloid Leukemia in Pediatric Patient-Age-Related Correlations: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- Hematopoietic Stem Cell Transplantation Outcomes for High-Risk AML: A Report From the Children's Oncology Group.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- Clinical impact of minimal residual disease in blood and bone marrow of children with acute myeloid leukemia.Blood advances · 2023Trial
- Phenotype in combination with genotype improves outcome prediction in acute myeloid leukemia: a report from Children's Oncology Group protocol AAML0531.Haematologica · 2017Trial
- Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.Genome medicine · 2016Trial
- Improved outcome of pediatric patients with acute megakaryoblastic leukemia in the AML-BFM 04 trial.Annals of hematology · 2015Trial
- Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia.Genes, chromosomes & cancer · 2026Article
- A New Paradigm for Pediatric AML: Improving the Pipeline for Treatments Targeting Cytogenetic and Molecular Alterations.Cancers · 2026Review
- Fully human anti-FOLR1 T-cell engager demonstrates potent activity in CBFA2T3::GLIS2 acute megakaryoblastic leukemia.Blood neoplasia · 2026Article
- Article
- [Acute megakaryoblastic leukemia with CBFA2T3::GLIS2 fusion gene: 3 cases report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- Article
- RAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.Cancer cell · 2026Article
- Genetic landscape of pediatric acute myeloid leukemia in Taiwan.Scientific reports · 2026Article
- Case Report: CBFA2T3::GLIS2-positive myeloid sarcoma with focal bone marrow involvement mimicking Ewing sarcoma in an infant.Frontiers in oncology · 2026Article
- Transcriptional rewiring by enhancer methylation in CBFA2T3-GLIS2-driven pediatric acute megakaryoblastic leukemia.Genes & diseases · 2026Article
- Rewiring the Fusion Oncoprotein EWSR1::FLI1 in Ewing Sarcoma with Bivalent Small Molecules.Journal of the American Chemical Society · 2025Article
- Using genomics to refine pediatric AML risk stratification.Hematology. American Society of Hematology. Education Program · 2025Review
- Article
- Unveiling the Genetic Mosaic of Pediatric AML: Insights from Southwest China.Current oncology (Toronto, Ont.) · 2025Article
94 more citing papers are in PubMed but not listed here.
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Authors and funding
49 authors at 14 institutions in 6 countries.
Funding
Abstract
To define the mutation spectrum in non-Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL), we performed transcriptome sequencing on diagnostic blasts from 14 pediatric patients and validated our findings in a recurrency/validation cohort consisting of 34 pediatric and 28 adult AMKL samples. Our analysis identified a cryptic chromosome 16 inversion (inv(16)(p13.3q24.3)) in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein. Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors. These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis.
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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.