| 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 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(8;21)(q24;q22) RUNX1/TRPS1 | |
| External links |
| 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 : Wed Nov 13 22:14:24 CET 2019 |
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