| Clinics and Pathology |
| Disease | T-cell acute lymphoblastic leukemia (ALL) and acute non lymhocytic leukemia (ANLL) |
| Phenotype / cell stem origin | 1 case of T-cell ALL and 2 cases of ANLL, one of which was a M4 |
| Epidemiology | 2 documented cases, male patients aged 5 yrs (ALL case) and 42 yrs (ANLL case) |
| Cytogenetics |
| Cytogenetics Morphological | +21 (ALL case); complex karyotype (ANLL case) |
| Genes involved and Proteins |
| Note | this translocation may be heterogeneous at the molecular level, as it is concerning the phenotype |
| Gene Name | TRPS1 |
| Location | 8q24 |
| Protein | transcriptional repressor |
| Germinal mutations | involved in tricho-rhino-phalangeal syndrome |
| Somatic mutations | involved with AML1in the M4-ANLL case |
| Gene Name | AML1 |
| Location | 21q22 |
| 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 |
| External links |
| Other database | t(8;21)(q24;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;21)(q24;q22) | CancerChromosomes (NCBI) |
| 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 |
| Abnormalities of chromosome 1 in relation to human malignant diseases. |
| Olˆ°h E, Balogh E, Kovˆ°cs I, Kiss A |
| Cancer genetics and cytogenetics. 1989 ; 43 (2) : 179-194. |
| PMID 2598163 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 02-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(8;21)(q24;q22). Atlas Genet Cytogenet Oncol Haematol. February 2003 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0821q24q22ID1263.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Jul 3 11:54:13 CEST 2010 |
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