Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(9;11)(p22;q23)
| Identity |
 | |
| t(9;11)(p22;q23) G- banding (left) - Courtesy Jean-Luc Lai and Alain Vanderhaegen (top 2), Courtesy Diane H Norback, Eric B Johnson, and Sara Morrison-Delap, UW Cytogenetic Services (bottom 2) ; R-banding (right): top: - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski, center top: t(9;11)+der(9)t(9;11) - Courtesy Christiane Charrin; bottom 2: - Courtesy Hossein Mossafa. FISH (left) - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski. The probe is MLL; one signal is on the normal 11, one signal on the der(11), and one signal (arrow) on the der(9); FISH (right) - Courtesy Hossein Mossafa (AN: abnormal). | |
| Clinics and Pathology |
| Disease | ANLL |
| Phenotype / cell stem origin | M5 most often (especially M5a), M4; de novo and therapy related ANLL with antitopoisomerase II drugs (epipodophyllotoxins, anthracyclins, actinomycin D) |
| Epidemiology | 2 to 5 % of ANLL; up to 25% of de novo M5a in children; all ages represented; sex ratio: 1M/1F |
| Clinics | organomegaly, frequent CNS involvement, especially in de novo cases; no preceding myelodysplastic phase, unlike classic therapy related ANLL with chromosome 5 and/or 7 involvement, short interval from initial drug therapy (may even be of 1-2 yrs) |
| Cytology | absence of trilineage dysplasia, unlike classic therapy related ANLL |
| Prognosis | CR in most de novo ANLL cases; the prognosis may not be as poor as in other 11q23 leukaemias, with a median survival around 4 yrs in de novo cases; very poor prognosis in secondary ANLL cases |
| Cytogenetics |
| Cytogenetics Morphological | may easily be overlooked; |
| Cytogenetics Molecular | FISH is indicated |
| Additional anomalies | none in 70% of cases, +8 in 20% |
| Variants | complex 3 way translocations t(9;11;Var) involving a (variable) third chromosome have been described, and showed that der(11) is the crucial one |
| Genes involved and Proteins |
| Gene Name | AF9 |
| Location | 9p22 |
| Protein | contains a nuclear targeting sequence; transcriptional activator; nuclear localisation |
| Gene Name | MLL |
| Location | 11q23 |
| Protein | contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear |
| Result of the chromosomal anomaly |
| Description | 5'MLL- 3' AF9; variable breakpoints |
| Description | N-term -- AT hook and DNA methyltransferase from MLL (1444 amino acids) fused to the 192 C-term amino acids from AF9 (as breakpoints are variable, this is only an exemple); 180 kDa |
| Expression Localisation | nuclear localisation |
| External links |
| Other database | t(9;11)(p22;q23) | Mitelman database (CGAP - NCBI) |
| To be noted |
| you may also have a glance at 11q23 rearrangements, which gives an overview of related diseases |
| Bibliography |
| Implication of prior treatment with drug combinations including inhibitors of topoisomerase II in therapy-related monocytic leukemia with a 9;11 translocation. |
| Albain KS, Le Beau MM, Ullirsch R, Schumacher H |
| Genes, chromosomes & cancer. 1990 ; 2 (1) : 53-58. |
| PMID 2177642 |
| Translocation t(9;11)(p21;q23) in pediatric de novo and secondary acute myeloblastic leukemia. |
| Sandoval C, Head DR, Mirro J Jr, Behm FG, Ayers GD, Raimondi SC |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1992 ; 6 (6) : 513-519. |
| PMID 1602790 |
| Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation. |
| Joh T, Kagami Y, Yamamoto K, Segawa T, Takizawa J, Takahashi T, Ueda R, Seto M |
| Oncogene. 1996 ; 13 (9) : 1945-1953. |
| PMID 8934541 |
| Contributor(s) |
| Written | 12-1997 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(9;11)(p22;q23). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0911.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/handle/2042/32070/12-1997-t0911.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:37 CET 2013 |
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