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

2000-02-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

treatment related acute myeloid leukemia

Phenotype stem cell 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 (guanine monphosphate synthetase)
Location
3q25.31
Dna rna description
2.2 kb mRNA
Protein description
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 (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
13-15 kb mRNA
Protein description
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

Description

fusion of MLL exon 7 to GMPS

Bibliography

Pubmed IDLast YearTitleAuthors
80891531994Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA.Hirst M et al
75595061995The glutamine hydrolysis function of human GMP synthetase. Identification of an essential active site cysteine.Nakamura J et al

Summary

Fusion gene

KMT2A/GMPS KMT2A (11q23.3) GMPS (3q25.31) COF 1841|KMT2A/GMPS KMT2A (11q23.3) GMPS (3q25.31) TIC

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1173/t(3;11)(q25;q23)