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t(3;11)(q13.13;q23) KMT2A/KIAA1524

Written2012-05Eva A Coenen, C Michel Zwaan, Marry M van den Heuvel-Eibrink, H Berna Beverloo, Rolf Marschalek, Claus Meyer
Department of pediatric oncology, Erasmus Medical Center / Sophia Children's hospital, Rotterdam, the Netherlands (EAC, CMZ, MMHE); Department of clinical genetics, Erasmus Medical Center / Sophia Children's hospital, Rotterdam, the Netherlands (HBB); Institute of pharmaceutical biology, ZAFES, Diagnostic center of acute leukemias (DCAL), Frankfurt, Germany (RM, CM)

(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
Atlas_Id 1593

Clinics and Pathology

Disease M5 acute myeloid leukemia (AML)
Clinics Poorly known: one case, a 4-months old girl with 46,XX,t(3;11)(q12~13;q23).

Genes involved and Proteins

Gene Name KMT2A
Location 11q23
Dna / Rna 21 exons, spanning about 100 kb; 13-17 kb mRNA.
Protein 431 kDa; contains two DNA binding motifs (an AT hook and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation.
Gene Name KIAA1524
Location 3q13.13
Note Alias: CIP2A.
Dna / Rna 21 exons, spanning about 40 kb; 3-4 kb mRNA.
Protein 905 amino acids containing protein with transmembrane domain and coiled coil domain; inhibits MYC directed inhibitory function of protein phosphatase 2A (PP2A).

Result of the chromosomal anomaly

Hybrid gene
  A. DNA sequence as derived from a Long distance inverse-PCR experiment. Shown in black is the sequence from MLL intron 9, exon 10 (Bold) and intron 10 respectively, in blue two inserted nucleotides, in red the sequence from KIAA1524 intron 16, exon 17 (Bold) and intron 17 respectively. (figure adapted from reference). B. Transcript (figure adapted from reference).
 
Description In the described patient MLL exon 1-10 are fused to KIAA1524 exon 17-21 due to translocation between MLL intron 10 and KIAA1524 intron 16.
Transcript See figure above.
Detection RT-PCR according to reference.
  
Fusion Protein
 
  MLL-KIAA1524 fusion protein is shown and its wildtype predecessors. AT: AT-hook, SNL1 and SNL2: subnuclear localization sites, MT: methyltransferase, PHD1-3 and PHD4: plant homology domains, BD: binding domain, FYRC and FYRN: domains involved in heterodimerisation, TASPASE1: taspase 1 cleavage sites, TAD: transcriptional activation domain, SET: Su(var)3-9, enchancer-of-zeste trithorax domain, CC: coiled coil domain, TMD: transmembrane domain, aa: amino acids. (figure adapted from reference).
Description From the fusion in the described patient a fusion protein of 1673 amino acids is expected.
Expression Localisation Unknown.
  

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

KIAA1524: A novel MLL translocation partner in acute myeloid leukemia.
Coenen EA, Zwaan CM, Meyer C, Marschalek R, Pieters R, van der Veken LT, Beverloo HB, van den Heuvel-Eibrink MM.
Leuk Res. 2011 Jan;35(1):133-5. Epub 2010 Oct 12.
PMID 20943269
 

Citation

This paper should be referenced as such :
Coenen, EA ; Zwaan, CM ; van, den Heuvel-Eibrink MM ; Beverloo, HB ; Marschalek, R ; Meyer, C
t(3;11)(q13.13;q23) MLL/KIAA1524
Atlas Genet Cytogenet Oncol Haematol. 2012;16(10):749-751.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t311q13q23MLLKIAA1524ID1593.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(q13.13;q23) KMT2A/KIAA1524

External links

KMT2A (11q23.3) KIAA1524 (3q13.13)

KMT2A (11q23.3) KIAA1524 (3q13.13)

Mitelman databaset(3;11)(q13.13;q23) [Case List]    t(3;11)(q13.13;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/KIAA1524 KMT2A (11q23.3) KIAA1524 (3q13.13)   [fusion1833]   [fusion1834]  
TICdbKMT2A/KIAA1524  KMT2A (11q23.3) KIAA1524 (3q13.13)
 
Disease databaset(3;11)(q13.13;q23) KMT2A/KIAA1524
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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