t(16;21)(q24;q22) RUNX1/CBFA2T3

2003-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) and therapy related AML

Phenotype stem cell origin

M1 or M2 AML


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.


15 available cases at least, sex ratio: 2M / 13F; mediane age around 50 yrs (range


blood data: pancytopenia



Genes Involved and Proteins

Gene name
CBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3)
Protein description
member of the ETO (MTG8) family
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
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


5 AML1 - 3 CBFA2T3

Highly cited references

Pubmed IDYearTitleCitations
269685322016RNA-sequencing analysis of core binding factor AML identifies recurrent ZBTB7A mutations and defines RUNX1-CBFA2T3 fusion signature.27
316483212019Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia.17
301502062018Prognostic 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.16
199631442010Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature.8
190238772009Identification of a potential "hotspot" DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation.5
317567772020Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia.4
224030582012Childhood acute myeloid leukemia with bone marrow eosinophilia caused by t(16;21)(q24;q22).4
302559792018Sequential reduced-intensity chemotherapy for allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia with rare cytogenetic abnormalities transformed from Fanconi anemia.1
326511092020Childhood Therapy-Related Acute Myeloid Leukemia with t(16;21)(q24;q22)/RUNX1-CBFA2T3 After a Primitive Neuroectodermal Tumor of the Chest Wall.0
222411582011[Acute myeloid leukemia with t(16;21)(q24;q22) in a child].0


Pubmed IDLast YearTitleAuthors
89320001996Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene.Berger R et al
95966461998The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family.Gamou T et al
78191021994Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies.Nylund SJ et al
27583951989Cytogenetics of childhood acute nonlymphocytic leukemia.Raimondi SC et al
109950192000AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases.Salomon-Nguyen F et al
92167141997A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: identification by fluorescence in situ hybridization.Shimada M et al
11921272200221q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop.Slovak ML et al
96315851998A case of therapy-related acute myeloblastic leukemia with t(16;21)(q24;q22) after chemotherapy with DNA-topoisomerase II inhibitors, etoposide and mitoxantrone, and the alkylating agent, cyclophosphamide.Takeda K et al
80438771994Clonal karyotypic hematopoietic cell abnormalities occurring after autologous bone marrow transplantation for Hodgkin's disease and non-Hodgkin's lymphoma.Traweek ST et al


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
Atlas Image
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.


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)

Historical Card

1998-04-01 t(16;21)(q24;q22) RUNX1/CBFA2T3 by  Christine Pérot