Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(9;11)(q34;q23) (AF9q34-MLL)
| Identity |
| Note | Not to be confused with the t(9;11)(q34;q23), involving MLL and FBP17 |
| Clinics and Pathology |
| Disease | De novo AML M5 |
| Epidemiology | Only one case to date, a 62 yr old male patient |
| Clinics | The patient presented with multi-organ failure due to leukostasis and infection. WBC was 248 x 109/L |
| Prognosis | Patient died within a few months after diagnosis |
| Cytogenetics |
| Additional anomalies | +8 and +13 in 40% of metaphases |
| Genes involved and Proteins |
| Gene Name | MLL |
| Location | 11q23 |
| Dna / Rna | 13-15 kb mRNA |
| Protein | 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation |
| Gene Name | AF9q34 |
| Location | 9q34, centromeric of FBP17 and ABL |
| Dna / Rna | 14 exons stretched over an area of about 84 kb, 5192 bp mRNA |
| Protein | 967 amino acids; contains a GAP related domain (GRD), an 'FLR'-motif, a Pleckstrin homology (PH) domain and a calcium/phospho-lipid-binding C2/CALB domain |
| Result of the chromosomal anomaly |
| Transcript | 5' MLL - 3' AF9q34 |
 | |
| Description | MLL/AF9q34 contains the AT-hook, DNA-Methyltransferase, Zinc-Fingers domains of MLL and the entire GAP related domain (GRD) and the C2/CALB domain of AF9q34 |
| External links |
| Other database | t(9;11)(q34;q23) (AF9q34-MLL) | Mitelman database (CGAP - NCBI) | |
| Other database | t(9;11)(q34;q23) (AF9q34-MLL) | 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 |
| Identification of a novel RAS GTPase-activating protein (RASGAP) gene at 9q34 as an MLL fusion partner in a patient with de novo acute myeloid leukemia. |
| von Bergh AR, Wijers PM, Groot AJ, van Zelderen-Bhola S, Falkenburg JH, Kluin PM, Schuuring E |
| Genes, chromosomes & cancer. 2004 ; 39 (4) : 324-334. |
| PMID 14978793 |
| Contributor(s) |
| Written | 08-2005 | Anne RM von Bergh |
| Citation |
| This paper should be referenced as such : |
| von Bergh ARM . t(9;11)(q34;q23) (AF9q34-MLL). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0911q34q23ID1197.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:45 2008 |
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