t(5;11)(q31;q23) KMT2A/ARHGAP26
2001-03-01 Stig E Bojesen Affiliation1.Department of Clinical Biochemistry, Herlev University Hospital, Herlev Ringvej 75, Herlev DK-2730, Denmark
Clinics and Pathology
Phenotype stem cell origin
1 case of chronic myelogenous leukemia (CML), one JMML evolving towards a M4-M5 type acute myeloid leukemia (AML), two M5-AML, one treatment related AML (t-AML), and one L2 acute lymphoblastic leukemia (ALL)
Epidemiology
6 cases known in the litterature; two infants, one 18 months old baby, and three adults (?, 55, 60 yrs); sex ration 4M/1F
Clinics
WBC: 20-420 X 109 /l
Pathology
In at least 2 infant cases, cutane infiltrations were noticed
Prognosis
survival (mths) was: 8+, 17, 17+, 48+ and 65+
Genes Involved and Proteins
Gene name
ARHGAP26 (GTPase activating protein for Rho associated with FAK)
Location
5q31.3
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Result of the Chromosomal Anomaly
Description
5 MLL-Inverted MLL-GRAF 3Hybrid transcript MLL-GRAF contains the code for the following domains: AT-hook+DNA methyltransferase (from MLL) + SH3 (from GRAF)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10908648 | 2000 | The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. | Borkhardt A et al |
| 8361230 | 1993 | The isolation of a yeast artificial chromosome which spans the chromosome 11q23 region involved in a number of translocations in acute leukaemias. | Bower M et al |
| 10206463 | 1999 | Congenital leukemia: successful treatment of a newborn with t(5;11)(q31;q23). | Fernandez MC et al |
| 9593286 | 1998 | Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants. | Harrison CJ et al |
| 2736242 | 1989 | AML associated with previous cytotoxic therapy, MDS or myeloproliferative disorders: results from the MRC's 9th AML trial. | Hoyle CF et al |
| 10400190 | 1999 | Acute myeloid leukemia with t(5;11): two case reports. | Itoh M et al |
| 1391936 | 1992 | Chromosome 11q23 translocations in both infant and adult acute leukemias are detected by in situ hybridization with a yeast artificial chromosome. | Kearney L et al |
Summary
Fusion gene
KMT2A/ARHGAP26 KMT2A (11q23.3) ARHGAP26 (5q31.3) COF 1936 1937 1938 1939|KMT2A/ARHGAP26 KMT2A (11q23.3) ARHGAP26 (5q31.3) TIC
Citation
Stig E Bojesen
t(5;11)(q31;q23) KMT2A/ARHGAP26
Atlas Genet Cytogenet Oncol Haematol. 2001-03-01
Online version: http://atlasgeneticsoncology.org/haematological/1192/t(5
