| Clinics and Pathology |
| Disease | Treatment related myelodysplastic syndrome (refractory anemia with excess of blasts: RAEB) |
| Etiology | RAEB occurred 60 w after diagnosis of an acute lymphoblastic leukemia treated with topoisomerase II inhibitors |
| Epidemiology | only one case to date, a 4 yr old female patient |
| Prognosis | the patient died 10 mths after diagnosis |
| Cytogenetics |
| Cytogenetics Morphological | a t(2;11)(p23;q23) with MLL involvement was also present in the same clone |
| Genes involved and Proteins |
| Note | The gene in 6p22 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(6;21)(p22;q22) | Mitelman database (CGAP - 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 |
| Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia. |
| Mathew S, Head D, Rubnitz JE, Raimondi SC |
| Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232. |
| PMID 10825008 |
| 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(6;21)(p22;q22). Atlas Genet Cytogenet Oncol Haematol. February 2003 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0621p22q22ID1266.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37965/1/02-2003-t0621p22q22ID1266.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:23 CET 2013 |
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