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

Written2000-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1121
Note not to be confused with the t(11;22)(q23;q11), involving MLL and hCDCrel

Clinics and Pathology

Disease a case of therapy related leukemia, 2.5 yrs after the treatment of a non Hodgkin lymphoma
Phenotype / cell stem 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 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 NameEP300 (E1A binding protein p300)
Location 22q13.2
Dna / Rna 9 kb mRNA
Protein 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

Hybrid gene
Transcript chimeric mRNAs from both derivative chromosomes are found
Fusion Protein
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

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.
Case Report A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)


Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13).
Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y
Blood. 1997 ; 90 (12) : 4699-4704.
PMID 9389684


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):16-16.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 4 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(q23;q13) KMT2A/EP300

External links

KMT2A (11q23.3) EP300 (22q13.2)

KMT2A (11q23.3) EP300 (22q13.2)

Mitelman databaset(11;22)(q23;q13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionKMT2A/EP300 KMT2A (11q23.3) EP300 (22q13.2)   [fusion1906]   [fusion1907]   [fusion1908]   [fusion1909]   [fusion1910]   [fusion1911]   [fusion1912]   [fusion1913]  
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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indexed on : Fri Oct 8 16:37:20 CEST 2021

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