t(11;15)(q23;q14) KMT2A/CASC5

2000-03-01   Christiane Charrin  , Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Service d Hematologie, Hopital Edouard Herriot, Lyon, France (CC).
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH); Service dHematologie, Hopital Edouard Herriot, Lyon, France (CC).

Clinics and Pathology

Disease

only 1 case with the ascertainment of AF15q14 involvement; a the very few other cases may or may not carry the same rearrangement

Phenotype stem cell origin

M4 AML in the AF15q14 case

Clinics

a 48 yr old man with previous history of toxic exposure who died 4 mths after diagnosis

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein description
3969 amino acids; 431 KDa; contains two DNA binding motifs: a AT hook homologous to high mobility group proteins HMGI-(Y) and HMGI(C) that binds to the minor groove of DNA , and zinc fingers, a DNA methyl transferase motif, a bromodomain, and segments of homology with trithorax, in particular in the C-terminal SET domain
Gene name
KNL1 (cancer susceptibility candidate 5)
Location
15q15.1
Dna rna description
at least 10 exons; spans more than 35 kb
Protein description
1833 amino acids; 206 kDa; nuclear localization domain in the c-term

Article Bibliography

Pubmed IDLast YearTitleAuthors
109806222000AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).Hayette S et al
76301911995Translocation (11;15)(q23;q14) in three patients with acute non-lymphoblastic leukemia (ANLL): clinical, cytogenetic and molecular studies.Hernández JM et al
80252821994Frequency and prognostic significance of HRX rearrangements in infant acute lymphoblastic leukemia: a Pediatric Oncology Group study.Rubnitz JE et al

Summary

Fusion gene

KMT2A/CASC5 KMT2A (11q23.3) CASC5 (15q15.1) COF 1869 1870 1871 1879 1880 1881 1943|KMT2A/CASC5 KMT2A (11q23.3) CASC5 (15q15.1) TIC
Atlas Image
t(11;15)(q23;q14) (R-banding) - Christiane Charrin.

Citation

Christiane Charrin ; Jean-Loup Huret

t(11;15)(q23;q14) KMT2A/CASC5

Atlas Genet Cytogenet Oncol Haematol. 2000-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1199/img/haematological-explorer/favicon/favicon-32x32.png