t(11;22)(q23;q13) KMT2A/EP300

2000-01-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

a case of therapy related leukemia, 2.5 yrs after the treatment of a non Hodgkin lymphoma

Phenotype stem cell origin

acute myeloid leukemia

Prognosis

unknown (relapse at 20 mths) but likely to be similar to the prognosis associated with other 11q23 therapy related leukemia

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
13-15 kb mRNA
Protein description
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 name
EP300 (E1A binding protein p300)
Location
22q13.2
Dna rna description
9 kb mRNA
Protein description
264 kDa; widely expressed; possesses a nuclear localization signal, a poly-serine, a bromodomain, a poly-glu, a binding region for E1A adenovirus, and a poly-gln;. interact with transcriptional activators as well as repressors; involved (with CBP) in growth, differentiation , and apoptosis

Result of the Chromosomal Anomaly

Transcript

chimeric mRNAs from both derivative chromosomes are found

Description

the MLL/p300 fusion transcript encodes a protein of about 3000 amino acids, the N-term half comprising the AT hook and DNA methyltransferase (exons 1 to 9) from MLL and the C-term half comprising the acetyltransferase domain and the TFIIB-binding domain of p300, excluding the nuclear localisation signal and the bromodomain

Bibliography

Pubmed IDLast YearTitleAuthors
93896841997Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13).Ida K et al

Summary

Fusion gene

KMT2A/EP300 KMT2A (11q23.3) EP300 (22q13.2) COF 1906 1907 1908 1909 1910 1911 1912 1913|KMT2A/EP300 KMT2A (11q23.3) EP300 (22q13.2) TIC

Note

not to be confused with the t(11;22)(q23;q11), involving MLL and hCDCrel

Citation

Jean-Loup Huret

t(11;22)(q23;q13) KMT2A/EP300

Atlas Genet Cytogenet Oncol Haematol. 2000-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1121/t(11;22)(q23;q13)-kmt2a-ep300

External Links