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

2014-06-01   Eva A Coenen , C Michel Zwaan , Marry M van den Heuvel-Eibrink , Claus Meyer , Rolf Marschalek , Ursula Creutzig , Rob Pieters , Jutta Bradtke 

1.Department of Pediatric Oncology and Hematology, Erasmus MC, Sophia Childrens 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
2.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

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 (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
21 exons, spanning about 100kb; 13-17 kb mRNA.
Protein description
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 (abl interactor 2)
Location
2q33.2
Dna rna description
16 exons, spanning about 104kb, about 22kb mRNA.
Protein description
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

Atlas Image
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 protocole

RT-PCR according to reference.

Bibliography

Pubmed IDLast YearTitleAuthors
223048322012Abl-interactor 2 (ABI2): a novel MLL translocation partner in acute myeloid leukemia.Coenen EA et al

Summary

Fusion gene

KMT2A/ABI2 KMT2A (11q23.3) ABI2 (2q33.2) COF 1835 1836 1837 1838|KMT2A/ABI2 KMT2A (11q23.3) ABI2 (2q33.2) TIC

Citation

Eva A Coenen ; C Michel Zwaan ; Marry M van den Heuvel-Eibrink ; Claus Meyer ; Rolf Marschalek ; Ursula Creutzig ; Rob Pieters ; Jutta Bradtke

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

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/haematological/2159/t(2;11)(q33;q23)-kmt2a-abi2

External Links