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

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/img/deep-insight-explorer/hgnc