t(5;11)(q31;q23) KMT2A/ARHGAP26

2001-03-01   Stig E Bojesen 

1.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)

Bibliography

Pubmed IDLast YearTitleAuthors
109086482000The 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
83612301993The 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
102064631999Congenital leukemia: successful treatment of a newborn with t(5;11)(q31;q23).Fernandez MC et al
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
27362421989AML associated with previous cytotoxic therapy, MDS or myeloproliferative disorders: results from the MRC's 9th AML trial.Hoyle CF et al
104001901999Acute myeloid leukemia with t(5;11): two case reports.Itoh M et al
13919361992Chromosome 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;11)(q31;q23)

External Links