Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

+11 or trisomy 11 (solely) KMT2A

Written1997-07François Desangles
Laboratoire de Biologie, Hopital du Val de Grace, 75230 Paris, France

(Note : for Links provided by Atlas : click)

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

Hybrid gene
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)
  
Fusion Protein
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

arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease database+11 or trisomy 11 (solely) KMT2A
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 27 12:51:36 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.