| Identity |
| Note | not to be confused with the t(11;22)(q23;q13), involving MLL and P300 |
| Clinics and Pathology |
| Disease | de novo acute non lymphocytic leukemia (ANLL), so far |
| Phenotype / cell stem origin | 2 cases of M4, one M2, and one M1 |
| Epidemiology | yet poorly known; 2 young adulds (22 and 34 yrs) and 2 infant twins; 2M/2F |
| Prognosis | documented in only 2 cases (dead at 10 and 21 mths); likely to be comparable with that of other entities with 11q23/MLL11q23/MLL involvement |
| Cytogenetics |
| Cytogenetics Morphological | sole anomaly in 3 of 3 cases |
| Genes involved and Proteins |
| Gene Name | MLL |
| Location | in 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 | hCDCRel |
| Location | 22q11 |
| Dna / Rna | 2 kb mRNA |
| Protein | hCDCRel (human cell division cycle related) is a septin (family of filament forming proteins, involved in cytosqueletal organization) |
| Result of the chromosomal anomaly |
| Description | 5 prime MLL - 3 poime hCDCRel, with fusion of MLL exon 7 to hCDCRel exon 3 |
| External links |
| Other database | t(11;22)(q23;q11.2) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;22)(q23;q11.2) | 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 |
| Molecular cloning of the breakpoint of t(11;22) (q23;q11) chromosome translocation in an adult acute myelomonocytic leukaemia. |
| Marukawa O, Akao Y, Inazawa J, Ariyama T, Abe T, Naoe T, Tanimoto M, Saito H, Otsuki Y, Tsujimoto Y |
| British journal of haematology. 1996 ; 92 (3) : 687-691. |
| PMID 8616037 |
| Acute myeloid leukemia with 11q23 translocations: myelomonocytic immunophenotype by multiparameter flow cytometry. |
| Baer MR, Stewart CC, Lawrence D, Arthur DC, Mrˆ„zek K, Strout MP, Davey FR, Schiffer CA, Bloomfield CD |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (3) : 317-325. |
| PMID 9529125 |
| t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. |
| Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA |
| Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (11) : 6413-6418. |
| PMID 9600980 |
| Structure and expression of the human septin gene HCDCREL-1. |
| Yagi M, Zieger B, Roth GJ, Ware J |
| Gene. 1998 ; 212 (2) : 229-236. |
| PMID 9611266 |
| Contributor(s) |
| Written | 02-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(11;22)(q23;q11.2). Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1122hCDCrelID1183.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:21 CET 2010 |
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