t(11;17)(q23;p13) KMT2A/GAS7

2000-06-01   Jean-Loup Huret 

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

Clinics and Pathology


acute myeloid leukemia (AML), acute lymphocytic leukemia (ALL)


poorly known: a few cases, but without ascertainement of GAS7 involvement (a gene in 17p13); they are cases of MDS in transformation, AML, bi-phenotypic leukemia, and ALL; one the other hand, one case of t(11;17) with MLL and GAS7 involvementshas been described: a 13-year-old boy, with a M4 treatment-related AML and a karyotype with an apparent del(11)(q23) (a cryptic t(11;17)(q23;p13)); four months later the patient died

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
21 exons, spanning over 100 kb; 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
Gene name
GAS7 (growth arrest-specific 7)
Dna rna description
genomic sequence 167 kb; 14 exons
Protein description
expression in quiescent/terminally differenciated cells, especially in the brain

Result of the Chromosomal Anomaly


5 MLL-3 GAS7; breakpoint in MLL intron 8, in MLL bcr; GAS7 breakpoint upstream of exon 1; fusion of mLL exon 7 or exon 8 to GAS7 exon 2


Pubmed IDLast YearTitleAuthors
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
107066192000Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.Megonigal MD et al


Fusion gene

KMT2A/GAS7 KMT2A (11q23.3) GAS7 (17p13.1) COF 1890 1891 1892 1893|KMT2A/GAS7 KMT2A (11q23.3) GAS7 (17p13.1) TIC


the translocation may be hidden, and can present as a del(11)(q23)


Jean-Loup Huret

t(11;17)(q23;p13) KMT2A/GAS7

Atlas Genet Cytogenet Oncol Haematol. 2000-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1137/t(11;17)(q23;p13)