t(3;11)(q25;q23) KMT2A/GMPS
2000-02-01 Jean-Loup Huret Affiliation1.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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8089153 | 1994 | Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA. | Hirst M et al |
| 7559506 | 1995 | The 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)-kmt2a-gmps
