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

Written2003-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1998-04Christine Pérot
Laboratoire de Cytogenetique, Hopital Saint-Antoine, Paris, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1123
  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 Children's 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 Children''s Hospital at Westmead Sydney, Australia.

Clinics and Pathology

Disease Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) and therapy related AML
Phenotype / cell stem 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 <15 - 62)
Clinics blood data: pancytopenia
Prognosis poor


Additional anomalies + 8 found in 7 of 15 cases

Genes involved and Proteins

Gene NameCBFA2T3 (core-binding factor, runt domain, alpha subunit 2; translocated to, 3)
Location 16q24.3
Protein member of the ETO (MTG8) family
Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Dna / Rna transcription is from telomere to centromere
Protein 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

Hybrid gene
Description 5' AML1 - 3' CBFA2T3

To be noted

Case Report A case of trisomy 8 and loss of the Y-chromosome as secondary aberrations in a ten year old boy with de novo AML FAB M2 and t(16;21)(q24;q22)


Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene.
Berger R, Le Coniat M, Romana SP, Jonveaux P
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The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family.
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PMID 10995019
A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: identification by fluorescence in situ hybridization.
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A 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.
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This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):274-275.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Pérot, C. t(16;21)(q24;q22). Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):104-104.

Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(16;21)(q24;q22) RUNX1/CBFA2T3

External links

RUNX1 (21q22.12) CBFA2T3 (16q24.3)

RUNX1 (21q22.12) CBFA2T3 (16q24.3)

Mitelman databaset(16;21)(q24;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1/CBFA2T3 [MCList]  RUNX1 (21q22.12) CBFA2T3 (16q24.3)
TICdbRUNX1/CBFA2T3  RUNX1 (21q22.12) CBFA2T3 (16q24.3)
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