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t(2;11)(q33;q23) KMT2A/ABI2

Written2014-06Eva A Coenen, C Michel Zwaan, Marry M van den Heuvel-Eibrink, Claus Meyer, Rolf Marschalek, Ursula Creutzig, Rob Pieters, Jutta Bradtke
Department of Pediatric Oncology and Hematology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands; Institute of Pharmaceutical Biology, ZAFES, Diagnostic Center of Acute Leukemias (DCAL), Frankfurt, Germany; AML-BFM Study Group, Hannover, Germany; Department of Pediatric Hematology and Oncology, Justus-Liebig-University, Giessen, Germany; m.vandenheuvel@erasmusmc.nl

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 2159

Clinics and Pathology

Disease M5 acute non lymphocytic leukemia (AML)
Clinics poorly known: one case, 5-months old girl with 46,XX,t(2;11)(q33;q23)

Genes involved and Proteins

Gene Name KMT2A
Location 11q23
Dna / Rna 21 exons, spanning about 100kb; 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 ABI2
Location 2q33
Dna / Rna 16 exons, spanning about 104kb, about 22kb mRNA.
Protein 513 amino acids containing protein, different isoforms described, contains an Abl-interactor homeodomain homologous region (HHR), SRC homology 3 (SH3) domains and proline rich stretches. Functions as inhibitor of c-Abl.

Result of the chromosomal anomaly

Hybrid gene
  MLL-ABI2 fusion product. DNA sequence is shown as derived from a long distance inverse PCR experiment. Shown in black is the sequence from MLL intron 8, exon 9 (bold) and intron 9, respectively, in blue two inserted nucleotides, in red the sequence from ABI2 intron 4. The schematic overview of transcripts shows the different splice variants that were present. cDNA sequence is shown as derived from Reverse Transcription-PCR using an exon 8 specific MLL and an exon 6 specific ABI2 primer. The gel picture shows multiple bands that were derived with these primers and were confirmed by cloning.
 
Transcript 3 different transcripts were detected, see above.
Detection RT-PCR according to reference.
  

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

Abl-interactor 2 (ABI2): a novel MLL translocation partner in acute myeloid leukemia.
Coenen EA, Zwaan CM, Meyer C, Marschalek R, Creutzig U, Pieters R, Bradtke J, van den Heuvel-Eibrink MM.
Leuk Res. 2012; 36(5): e113-5.
PMID 22304832
 

Citation

This paper should be referenced as such :
Coenen EA, Zwaan CM, van den Heuvel-Eibrink MM, Meyer C, Marschalek R, Creutzig U, Pieters R, Bradtke J.
t(2;11)(q33;q23) KMT2A/ABI2;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0211q33q23ID2159.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(2;11)(q33;q23) KMT2A/ABI2

External links

KMT2A (11q23.3) ABI2 (2q33.2)

KMT2A (11q23.3) ABI2 (2q33.2)

Mitelman databaset(2;11)(q33;q23) [Case List]    t(2;11)(q33;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/ABI2 KMT2A (11q23.3) ABI2 (2q33.2)   [fusion1835]   [fusion1836]   [fusion1837]   [fusion1838]  
TICdbKMT2A/ABI2  KMT2A (11q23.3) ABI2 (2q33.2)
 
Disease databaset(2;11)(q33;q23) KMT2A/ABI2
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Mar 14 13:54:28 CET 2017


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