t(14;20)(q32;q13) IGH/CEBPB
2008-06-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Phenotype stem cell origin
CD10+ acute lymphoblastic leukaemia (B-ALL)
Epidemiology
Only four cases to date (Martineau et al., 1996; Akasaka et al., 2007), one male patient and 3 female patients, aged 11, 13, 15, and 35 yrs.
Clinics
There was a high WBC in 2 of 3 cases.
Prognosis
Survival was 7 mths+, 42 mths+, and 87 mths+.
Note
In the 3 cases reported by Akasaka et al (2007), a CEBPB / IGH involvement was uncovered.
Genes Involved and Proteins
Gene name
CEBPB (CCAAT/enhancer binding protein beta)
Location
20q13.13
Protein description
DNA-binding protein. CCAAT enhancer-binding protein (CEBP) transcription factors are a family of 6 multifunctional basic leucine zipper (bZIP) transcription factors. The 5 other CEBPs are: CEBPA (19q13), CEBPD (8q11), CEBPE (8q11), CEBPG (19q13), all four equally implicated in leukemias, and DDIT3/CHOP/CEBP zeta (12q13), so far known to be involved in solid tumours (liposarcoma). These transcription factors play a key role in cellular differentiation, in particular in the control of myeloid differentiation. CEBPB is composed of a N-term transactivation domain, a negative regulatory domain, a DNA-binding basic motif, and a leucine-zipper domain in C-term. Different isoforms (LAP: liver activating protein, and LIP: liver inhibitory protein). CEBPB suppresses cell proliferation through repression of E2F target genes; on the other hand, CEBPB may promote tumorization of epithelial cells (Ramji et al., 2002; Nerlov et al., 2007).
Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Result of the Chromosomal Anomaly
Oncogenesis
Overexpression of the CEBP gene.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17170124 | 2007 | Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). | Akasaka T et al |
| 8889503 | 1996 | Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding. | Martineau M et al |
| 17658261 | 2007 | The C/EBP family of transcription factors: a paradigm for interaction between gene expression and proliferation control. | Nerlov C et al |
| 12006103 | 2002 | CCAAT/enhancer-binding proteins: structure, function and regulation. | Ramji DP et al |
Summary
Fusion gene
IGH/CEBPB IGH (14q32.33) CEBPB (20q13.13) M t(14;20)(q32;q13)
Citation
Jean-Loup Huret
t(14;20)(q32;q13) IGH/CEBPB
Atlas Genet Cytogenet Oncol Haematol. 2008-06-01
Online version: http://atlasgeneticsoncology.org/haematological/1439/t(14
