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t(3;11)(q25;q23) KMT2A::GMPS

Written2000-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1173

Clinics and Pathology

Disease treatment related acute myeloid leukemia
Phenotype / cell stem origin M4 AML
Etiology one case, a 13yr old boy; occurred 9 yrs after treatment for neuroblastoma with antitopoisomerase II

Genes involved and Proteins

Gene NameGMPS (guanine monphosphate synthetase)
Location 3q25.31
Dna / Rna 2.2 kb mRNA
Protein 76 kDa; enzyme of the de novo synthesis of guanine nucleotides: amidotransferase that catalyzes the amination of xanthosine 5 prime monophosphate to form GMP
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

Result of the chromosomal anomaly

Hybrid gene
Description fusion of MLL exon 7 to GMPS

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.


Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA.
Hirst M, Haliday E, Nakamura J, Lou L
The Journal of biological chemistry. 1994 ; 269 (38) : 23830-23837.
PMID 8089153
The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine.
Nakamura J, Straub K, Wu J, Lou L
The Journal of biological chemistry. 1995 ; 270 (40) : 23450-23455.
PMID 7559506
t(3;11)(q25;q23) fuses MLL with the GMPS (guanosine 5'-monophosphate synthetase) gene in treatment-related acute myeloid leukemia (AML).
Pegram LD, Megonigal MD, Lange BJ, Nowell PC, Rappaport EF, Felix CA
Blood. 1999 ; 94 (numero Suppl 1).


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):41-41.
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(3;11)(q25;q23) KMT2A/GMPS

External links

KMT2A (11q23.3) GMPS (3q25.31)

KMT2A (11q23.3) GMPS (3q25.31)

Mitelman databaset(3;11)(q25;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionKMT2A/GMPS KMT2A (11q23.3) GMPS (3q25.31)   [fusion1841]  
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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