| Clinics and Pathology |
| Disease | treatment related acute non lymphoblastic leukemia |
| Phenotype / cell stem origin | M4 ANLL |
| 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 | MLL |
| 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 |
| Description | fusion of MLL exon 7 to GMPS |
| External links |
| Other database | t(3;11)(q25;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(3;11)(q25;q23) | CancerChromosomes (NCBI) |
| 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). |
| Contributor(s) |
| Written | 02-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(3;11)(q25;q23). Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Anomalies/t311GMPSID1173.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:31 CET 2010 |
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