| Clinics and Pathology |
| Disease | refractory anemia with excess of blasts and M5- acute non lymphocytic leukemia |
| Etiology | tretment of a non Hodgkin lymphoma 2 yrs before diagnosis in 1 case |
| Epidemiology | only 2 male patient cases, aged 38 yrs and 69 yrs |
| Cytogenetics |
| Cytogenetics Morphological | Complex karyotypes in 1 case, +10 in the other one |
| Genes involved and Proteins |
| Note | The gene in 20q13 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner |
| 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(20;21)(q13;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(20;21)(q13;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 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. |
| Secker-Walker LM, Mehta A, Bain B |
| British journal of haematology. 1995 ; 91 (2) : 490-501. |
| PMID 8547101 |
| Identification of two new translocations that disrupt the AML1 gene. |
| Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M |
| Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143. |
| PMID 11106827 |
| Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia. |
| Mathew S, Shurtleff SA, Raimondi SC |
| Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193. |
| PMID 11550288 |
| Contributor(s) |
| Written | 02-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(20;21)(q13;q22). Atlas Genet Cytogenet Oncol Haematol. February 2003 . URL : http://AtlasGeneticsOncology.org/Genes/t2021q13q22ID1264.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:07:40 2008 |
For comments and suggestions or contributions, please contact us