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t(8;21)(q24;q22) RUNX1/TRPS1

Written2003-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1263

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia (ALL) and acute non lymhocytic leukemia (AML)
Phenotype / cell stem origin 1 case of T-cell ALL and 2 cases of AML, one of which was a M4
Epidemiology 2 documented cases, male patients aged 5 yrs (ALL case) and 42 yrs (AML case)


Cytogenetics Morphological +21 (ALL case); complex karyotype (AML case)

Genes involved and Proteins

Note this translocation may be heterogeneous at the molecular level, as it is concerning the phenotype
Gene NameTRPS1 (transcriptional repressor GATA binding 1)
Location 8q23.3
Protein transcriptional repressor
Germinal mutations involved in tricho-rhino-phalangeal syndrome
Somatic mutations involved with AML1in the M4-AML case
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

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


AML1-TRPS1 chimeric protein is generated by t(8;21)(q24;q22) in relapsing acute myeloblastic leukemia.
Asou N, Matsuno N, Mitsuya H
Am Soc Hematol,. 1943.
Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene.
Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO
Apoptosis : an international journal on programmed cell death. 2002 ; 7 (1) : 13-21.
PMID 11773701
Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma.
Kikuchi A, Hayashi Y, Kobayashi S, Hanada R, Moriwaki K, Yamamoto K, Fujimoto J, Kaneko Y, Yamamori S
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1993 ; 7 (7) : 933-938.
PMID 8321044
Abnormalities of chromosome 1 in relation to human malignant diseases.
Oláh E, Balogh E, Kovács I, Kiss A
Cancer genetics and cytogenetics. 1989 ; 43 (2) : 179-194.
PMID 2598163


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):117-117.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;21)(q24;q22) RUNX1/TRPS1

External links

RUNX1 (21q22.12) TRPS1 (8q23.3)

RUNX1 (21q22.12) TRPS1 (8q23.3)

Mitelman databaset(8;21)(q24;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1/TRPS1 [MCList]  RUNX1 (21q22.12) TRPS1 (8q23.3)
TICdbRUNX1/TRPS1  RUNX1 (21q22.12) TRPS1 (8q23.3)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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