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t(11;14)(q23;q24) KMT2A::GPHN

Written2002-04Mariko Eguchi
Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1198
  t(11;14)(q23;q24), G-banding

Clinics and Pathology

Disease AML and therapy related AL
Phenotype / cell stem origin monoblastic, unclassified
Epidemiology Rare. Three cases reported so far.
Prognosis Very poor. Less than 2 months survival in two cases.


Additional anomalies Not found in mainline in reported cases.

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 36 exons, spans over 100kb, ORF 12kb.
Protein 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain.
Gene NameGPHN (Gephyrin)
Location 14q23.3
Dna / Rna 29 exons, spans approximately 800kb, ORF 2.3kb
Protein 736 to 770 amino acids; 93-105 kDa; submembraneous scaffold protein that anchors glycine receptor to postsynaptic cytoskeletal elements through a putative microtubule binding motif. GPHN is also involved in molybdenum cofactor biosynthesis (MoaB, MogA and MoeA homology domain), and interacts with RAFT-1.

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3' GPHN on der (11)
Transcript no GPHN-MLL reciprocal transcript
Fusion Protein
  MLL-GPHN protein
Description C-terminal half of GPHN, including the suspected putative microtubule binding motif and MoeA homology domain, is fused to the N-terminal portion of MLL.

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.


Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins.
Ayton PM, Cleary ML
Oncogene. 2001 ; 20 (40) : 5695-5707.
PMID 11607819
The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.
David-Watine B
Gene. 2001 ; 271 (2) : 239-245.
PMID 11418245
GPHN, a novel partner gene fused to MLL in a leukemia with t(11;14)(q23;q24).
Eguchi M, Eguchi-Ishimae M, Seto M, Morishita K, Suzuki K, Ueda R, Ueda K, Kamada N, Greaves M
Genes, chromosomes & cancer. 2001 ; 32 (3) : 212-221.
PMID 11579461
Receptors, gephyrin and gephyrin-associated proteins: novel insights into the assembly of inhibitory postsynaptic membrane specializations.
Kneussel M, Betz H
The Journal of physiology. 2000 ; 525 Pt 1 : 1-9.
PMID 10811719
t(11;14)(q23;q24) generates an MLL-human gephyrin fusion gene along with a de facto truncated MLL in acute monoblastic leukemia.
Kuwada N, Kimura F, Matsumura T, Yamashita T, Nakamura Y, Wakimoto N, Ikeda T, Sato K, Motoyoshi K
Cancer research. 2001 ; 61 (6) : 2665-2669.
PMID 11289145
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes.
Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Antonucci A, Spadano A, Di Lorenzo R, Torlontano G
Cancer genetics and cytogenetics. 1992 ; 61 (2) : 162-164.
PMID 1638498
Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein.
Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G, Beyreuther K, Maulet Y, Werner P, Langosch D, Kirsch J
Neuron. 1992 ; 8 (6) : 1161-1170.
PMID 1319186


This paper should be referenced as such :
Eguchi, M
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):213-214.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;14)(q23;q24) KMT2A/GPHN

External links

KMT2A (11q23.3) GPHN (14q23.3)

KMT2A (11q23.3) GPHN (14q23.3)

Mitelman databaset(11;14)(q23;q24)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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/GPHN KMT2A (11q23.3) GPHN (14q23.3)   [fusion1850]   [fusion1851]   [fusion1852]  
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 16:37:14 CEST 2021

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