t(11;15)(q23;q14) KMT2A/CASC5
2000-03-01 Christiane Charrin , Jean-Loup Huret Affiliation1.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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 10980622 | 2000 | AF15q14, 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 |
| 7630191 | 1995 | Translocation (11;15)(q23;q14) in three patients with acute non-lymphoblastic leukemia (ANLL): clinical, cytogenetic and molecular studies. | Hernández JM et al |
| 8025282 | 1994 | Frequency 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
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/t(11;15)(q23;q14)-kmt2a-casc5
