t(16;21)(q24;q22) RUNX1/CBFA2T3
2003-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) and therapy related AML
Phenotype stem cell origin
M1 or M2 AML
Etiology
11 of 15 cases have had treatment for a previous malignancy (treatment related MDS or AML (t-MDS/AML)). Previous disease was a breast cancer in 5 cases, a hematologic malignancy in 4.
Epidemiology
15 available cases at least, sex ratio: 2M / 13F; mediane age around 50 yrs (range
Clinics
blood data: pancytopenia
Prognosis
poor
Genes Involved and Proteins
Gene name
CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3)
Location
16q24.3
Protein description
member of the ETO (MTG8) family
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Dna rna description
transcription is from telomere to centromere
Protein description
contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes.
Result of the Chromosomal Anomaly
Description
5 AML1 - 3 CBFA2T3
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30150206 | 2018 | Prognostic impact of t(16;21)(p11;q22) and t(16;21)(q24;q22) in pediatric AML: a retrospective study by the I-BFM Study Group. | 60 |
| 31648321 | 2019 | Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia. | 54 |
| 38651500 | 2024 | Identification of the characteristics and prognostic impact of FUS::ERG and RUNX1::CBFA2T3 fusion genes in adult acute myeloid leukemia patients. | 0 |
| 26968532 | 2016 | RNA-sequencing analysis of core binding factor AML identifies recurrent ZBTB7A mutations and defines RUNX1-CBFA2T3 fusion signature. | 0 |
| 19963144 | 2010 | Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature. | 0 |
| 32651109 | 2020 | Childhood Therapy-Related Acute Myeloid Leukemia with t(16;21)(q24;q22)/RUNX1-CBFA2T3 After a Primitive Neuroectodermal Tumor of the Chest Wall. | 0 |
| 31756777 | 2020 | Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia. | 0 |
| 19023877 | 2009 | Identification of a potential "hotspot" DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation. | 0 |
| 22403058 | 2012 | Childhood acute myeloid leukemia with bone marrow eosinophilia caused by t(16;21)(q24;q22). | 0 |
| 22241158 | 2011 | [Acute myeloid leukemia with t(16;21)(q24;q22) in a child]. | 0 |
| 30255979 | 2018 | Sequential reduced-intensity chemotherapy for allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia with rare cytogenetic abnormalities transformed from Fanconi anemia. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|
Summary
Fusion gene
RUNX1/CBFA2T3 RUNX1 (21q22.12) CBFA2T3 (16q24.3) M t(16;21)(q24;q22)|RUNX1/CBFA2T3 RUNX1 (21q22.12) CBFA2T3 (16q24.3) TIC
t(16;21)(q24;q22) G-banding: 2 Top left - Courtesy Jean Luc Laï; 3 Bottom left - Courtesy Dorothy Hung, Luke St Heaps and Dale Wright, The Cytogenetics Department of Childrens Hospital at Westmead Sydney, Australia. R-banding: Top right - Courtesy Jean Luc Laï and Bottom right - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski). Fish studies: Top: chromosome 16 and 21 paints; Middle: RUNX1 probe: the 2 chromosomes 21 and the der(16) are labelled - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski; Bottom: ETV6 and RUNX1 probes - Courtesy Dorothy Hung Luke St Heaps and Dale Wright, The Cytogenetics Department of Childrens Hospital at Westmead Sydney, Australia.
Citation
Jean-Loup Huret
t(16;21)(q24;q22) RUNX1/CBFA2T3
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1123/t(16;21)(q24;q22)-runx1-cbfa2t3
