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t(9;11)(q34;q23) KMT2A/DAB2IP

Written2005-08Anne RM von Bergh
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1197
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 NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
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 NameDAB2IP (DAB2 interacting protein)
Location 9q33.2
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

Hybrid gene
Transcript 5' MLL - 3' AF9q34
  
Fusion Protein
 
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
  

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
 

Citation

This paper should be referenced as such :
von Bergh, ARM
t(9;11)(q34;q23) AF9q34/MLL
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):22-23.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0911q34q23ID1197.html


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes DAB2IP KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;11)(q34;q23) KMT2A/DAB2IP

External links

KMT2A (11q23.3) DAB2IP (9q33.2)

KMT2A (11q23.3) DAB2IP (9q33.2)

Mitelman databaset(9;11)(q34;q23) [Case List]    t(9;11)(q34;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/DAB2IP KMT2A (11q23.3) DAB2IP (9q33.2)   [fusion1853]   [fusion1854]  
TICdbKMT2A/DAB2IP  KMT2A (11q23.3) DAB2IP (9q33.2)
 
Disease databaset(9;11)(q34;q23) KMT2A/DAB2IP
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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