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t(3;11)(q21;q23) KMT2A::EEFSEC

Written2011-09Jean-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 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
Atlas_Id 1407

Clinics and Pathology

Disease Acute leukemia
Epidemiology Only two cases of acute leukemia to date (2 female patients); in one case, the phenotype was described: it was a case of biphenotypic acute leukemia (BAL), a B-ALL expressing CD13 (Hanson et al., 1993).
Clinics No data.


Cytogenetics Morphological A complex karyotype was found in both cases. In one case, a t(9;22)(q34;q11) was also present.

Genes involved and Proteins

Note The genes involved in the translocation were determined in one case (Meyer et al., 2005).
Gene NameEEFSEC (eukaryotic elongation factor, selenocysteine-tRNA specific)
Location 3q21.3
Protein EEFSEC, often called SELB, is the elongation factor for delivery of selenocysteinyl-tRNA to the ribosome. Selenocysteine (Sec) is found in the active sites of enzymes, most of which are involved in redox reactions (Paleskava et al., 2010).
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Protein A major transcript of 14982 bp produces a 3969 amino acids protein from 36 of the 37 exons. Contains from N-term to C-term a binding site for MEN1, 3 AT hooks (binds to the minor grove of DNA); 2 speckled nuclear localisation signals; 2 repression domains RD1 and RD2: RD1 or CXXC: cystein methyl transferase, binds CpG rich DNA, has a transcriptional repression activity; RD2 recruits histone desacetylases HDAC1 and HDAC2; 3 plant homeodomains (cystein rich zinc finger domains, with homodimerization properties), 1 bromodomain (may bind acetylated histones), and 1 plant homeodomain; these domains may be involved in protein-protein interaction; a FYRN and a FRYC domain; a transactivation domain which binds CBP; may acetylates H3 and H4 in the HOX area; a SET domain: methyltransferase; methylates H3, including histones in the HOX area for allowing chromatin to be open to transcription. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus: a p300/320 N-term protein called MLL-N, and a p180 C-term protein, called MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID. General transcription factor; maintains HOX genes expression in undifferentiated cells. Major regulator of hematopoiesis and embryonic development; role in cell cycle regulation.

Result of the chromosomal anomaly

Hybrid gene
Description Fusion between MLL intron 9 and EEFSEC intron 1, but with no maintenance of an open reading frame. This translocation seems to create nonfunctional fusion genes.

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.


Acute biphenotypic leukaemia: immunophenotypic and cytogenetic analysis.
Hanson CA, Abaza M, Sheldon S, Ross CW, Schnitzer B, Stoolman LM.
Br J Haematol. 1993 May;84(1):49-60.
PMID 7687860
Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.
Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R.
Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):449-54. Epub 2004 Dec 30.
PMID 15626757
Thermodynamic and kinetic framework of selenocysteyl-tRNASec recognition by elongation factor SelB.
Paleskava A, Konevega AL, Rodnina MV.
J Biol Chem. 2010 Jan 29;285(5):3014-20. Epub 2009 Nov 23.
PMID 19940162


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2012;16(2):143-144.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;11)(q21;q23) KMT2A/EEFSEC

External links

KMT2A (11q23.3) EEFSEC (3q21.3)

KMT2A (11q23.3) EEFSEC (3q21.3)

Mitelman databaset(3;11)(q21;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [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]
COSMIC_fusionKMT2A/EEFSEC KMT2A (11q23.3) EEFSEC (3q21.3)   [fusion2064]  
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Oct 8 16:36:27 CEST 2021

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