t(14;20)(q32;q13) IGH/CEBPB

2008-06-01   Jean-Loup Huret  

1.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 IDLast YearTitleAuthors
171701242007Five 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
88895031996Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding.Martineau M et al
176582612007The C/EBP family of transcription factors: a paradigm for interaction between gene expression and proliferation control.Nerlov C et al
120061032002CCAAT/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/deep-insight-explorer/js/meetings/