Written | 2003-02 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
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 |
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 Name | TRPS1 (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 Name | RUNX1 (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. |
Bibliography |
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 |
Citation |
This paper should be referenced as such : |
Huret, JL |
t(8;21)(q24;q22) |
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):117-117. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0821q24q22ID1263.html |
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 |
Mitelman database | t(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 database | RUNX1/TRPS1 [MCList] RUNX1 (21q22.12) TRPS1 (8q23.3) |
TICdb | RUNX1/TRPS1 RUNX1 (21q22.12) TRPS1 (8q23.3) |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:26:12 CET 2020 |
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