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.

Bibliography

Pubmed IDLast YearTitleAuthors

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/js/js/template.js