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 (myeloid/lymphoid or mixed lineage leukemia) |
Location | 11q23.3 |
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 |
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 : Thu Feb 14 17:41:16 CET 2019 |
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