ArticleBlood2013
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Prognostic Significance of KIT Mutations in Core-Binding Factor Acute Myeloid Leukemia: A Systematic Review and Meta-Analysis.PloS one · 2016Pooled it
- Genetic alterations and measurable residual disease in core binding factor acute myeloid leukemia.Leukemia · 2026Article
- Article
- The Fusion Genes and Their Relation with Genetic Variants in Egyptian AML Patients.Asian Pacific journal of cancer prevention : APJCP · 2025Article
- Integrated stem cell signature and cytomolecular risk determination in pediatric acute myeloid leukemia.Nature communications · 2022Article
- CBFB-MYH11 fusion transcripts distinguish acute myeloid leukemias with distinct molecular landscapes and outcomes.Blood advances · 2021Article
- How to Improve Prognostication in Acute Myeloid Leukemia withBiomedicines · 2021Review
- Incidental identification of inv(16)(p13.1q22)/Cold Spring Harbor molecular case studies · 2021Article
- Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2021Article
- [Hematologic malignancies with coexisting t(9;22) and inv(16) chromosomal abnormalities: report of three cases and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Review
- Use of Minimal Residual Disease in Acute Myeloid Leukemia Therapy.Current treatment options in oncology · 2020Review
- Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB gene fusion: a report of two cases and literature review.Molecular cytogenetics · 2020Article
- Development and application of a rapid molecular method for detection of fusion genes in pediatric leukemia.International journal of clinical and experimental pathology · 2018Article
- Detection of KIT mutations in core binding factor acute myeloid leukemia.Leukemia research reports · 2018Article
- Prevalence and Clinical Significance of FLT3 and NPM1 Mutations in Acute Myeloid Leukaemia Patients of Assam, India.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2018Article
- Myeloid neoplasms with concurrent BCR-ABL1 and CBFB rearrangements: A series of 10 cases of a clinically aggressive neoplasm.American journal of hematology · 2017Article
- Application of the AMLprofiler Diagnostic Microarray in the South African Setting.Stem cells international · 2017Article
- The Globalization of Cooperative Groups.Seminars in oncology · 2015Review
- Go retro and get a GRIP.Genome biology · 2013Article
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Authors and funding
25 authors at 6 institutions in 1 country.
Funding
Abstract
The inv(16)(p13q22)/t(16;16)(p13;q22) in acute myeloid leukemia results in multiple CBFB-MYH11 fusion transcripts, with type A being most frequent. The biologic and prognostic implications of different fusions are unclear. We analyzed CBFB-MYH11 fusion types in 208 inv(16)/t(16;16) patients with de novo disease, and compared clinical and cytogenetic features and the KIT mutation status between type A (n = 182; 87%) and non-type A (n = 26; 13%) patients. At diagnosis, non-type A patients had lower white blood counts (P = .007), and more often trisomies of chromosomes 8 (P = .01) and 21 (P < .001) and less often trisomy 22 (P = .02). No patient with non-type A fusion carried a KIT mutation, whereas 27% of type A patients did (P = .002). Among the latter, KIT mutations conferred adverse prognosis; clinical outcomes of non-type A and type A patients with wild-type KIT were similar. We also derived a fusion-type-associated global gene-expression profile. Gene Ontology analysis of the differentially expressed genes revealed-among others-an enrichment of up-regulated genes involved in activation of caspase activity, cell differentiation and cell cycle control in non-type A patients. We conclude that non-type A fusions associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile.
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