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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)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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 Name GMPS
Location 3q24
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 Name KMT2A
Location in 11q23
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.

Bibliography

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).
 

Citation

This paper should be referenced as such :
Huret, JL
t(3;11)(q25;q23)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):41-41.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t311GMPSID1173.html


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

Genes GMPS KMT2A

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) [Case List]    t(3;11)(q25;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionKMT2A/GMPS KMT2A (11q23.3) GMPS (3q25.31)   [fusion1841]  
TICdbKMT2A/GMPS  KMT2A (11q23.3) GMPS (3q25.31)
 
Disease databaset(3;11)(q25;q23) KMT2A/GMPS
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Fri Jun 30 11:23:58 CEST 2017


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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.