| Written | 1997-07 | François Desangles |
| Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
| ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
| Atlas_Id | 1026 |
| Clinics and Pathology |
| Disease | myeloid lineage: (AML, MDS) |
| Phenotype / cell stem origin | M1, M2, and M4 AML; therapy related AML; MDS evolving towards AML; stem cell immunophenotype (DR+, CD34+, and CD15, 33 and/or 13 positive); trilineage dysplasia may be present; to be noted that M1 and M2 subtypes of AML have rarely been found associated with the classical MLL rearrangements |
| Epidemiology | frequency: 1% of AML and MDS as well; balanced sex ratio; found in adults; med age: 60 yrs |
| Prognosis | short CR; poor prognosis |
| Cytogenetics |
| Cytogenetics Morphological | +11 |
| Cytogenetics Molecular | partial(!) tandem duplication (in situ) of MLL, gene located in 11q23 |
| Additional anomalies | none (by that very fact) |
| Genes involved and Proteins |
| Gene Name | KMT2A |
| Location | 11q23 |
| Dna / Rna | 21 exons, spanning over 100 kb; 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 ; wide expression; nuclear localisation; transcriptional regulatory factor |
| Result of the chromosomal anomaly |
| Description | exons 1 to 6 or 8 fused to a nearly entire MLL gene, starting at exon 2 (i.e. the duplicated segment is E2 to E6 or 8) |
| Description | AT hook and DNA methyltransferase from MLL in N-term fused to a quite entire MLL in C-term nuclear localisation probable altered transcriptional regulation |
| To be noted |
| such a tandem duplication of MLL may also be found in cases with a normal karyotype. |
| Bibliography |
| Characteristics of trisomy 11 in childhood acute leukemia with review of the literature. |
| Ingram L, Raimondi SC, Mirro J Jr, Rivera GK, Ragsdale ST, Behm F |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1989 ; 3 (10) : 695-698. |
| PMID 2674563 |
| Self-fusion of the ALL1 gene. A new genetic mechanism for acute leukemia. |
| Schichman SA, Canaani E, Croce CM |
| JAMA : the journal of the American Medical Association. 1995 ; 273 (7) : 571-576. |
| PMID 7837391 |
| Citation |
| This paper should be referenced as such : |
| Desangles, F |
| +11 or trisomy 11 (solely) |
| Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):12-12. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/tri11ID1026.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | KMT2A |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:02 CEST 2017 |
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