t(14;14)(q11;q32) CEBPE/IGH
inv(14)(q11q32) CEBPE/IGH

2008-05-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


CD10+ acute lymphoblastic leukaemia (B-ALL)


Only 4 cases to date of t(14;14)(q11;q32)/inv(14)(q11q32) with CEBPE and IGH involvements (Akasaka et al., 2007). Five other cases of t(14;14)(q11;q32)/inv(14)(q11q32) in B-cell leukemias are known (Denny et al., 1986; Speleman et al., 1991; Chervinsky et al., 1995; Wong et al., 1995; Thomas et al., 2001), but without proof that CEBPE was involved. As a matter of fact, a t(4;11)(q21;q23) was found in 2 of these cases, and a t(8;14)(q24;q32) in another case; this latter group is certainly heterogeneous.


The four patients were male patients, aged 15, 25, 45, and 45 yrs, with a WBC under 50 x 109/l. Survival is available only for two cases: 19 mths+ and 48 mths+, resembling the relatively fair survival of patients with a t(8;14)(q11;q32) CEBPD/IGH translocation. One case was a Down syndrome patient; this may not be anecdotical, since more than 1/4 of t(8;14)(q11;q32) case are also Down syndrome patients.

Genes Involved and Proteins

Gene name
CEBPE (CCAAT/enhancer binding protein epsilon)
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), CEBPB (20q13), CEBPD (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. CEBPE 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 (Ramji et al., 2002; Nerlov et al., 2007).
Gene name
IGH (Immunoglobulin Heavy)

Result of the Chromosomal Anomaly


Overexpression of the CEBP gene.

Highly cited references

Pubmed IDYearTitleCitations
221374872011Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia.1
221374872011Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia.1


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
75364641995Concurrent presence of inv(14)(q11q32) and t(4;11)(q21;q23) in pre-B acute lymphoblastic leukemia.Chervinsky DS et al
30923551986Common mechanism of chromosome inversion in B- and T-cell tumors: relevance to lymphoid development.Denny CT 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
20045491991Analysis of whole-arm translocations in malignant blood cells by nonisotopic in situ hybridization.Speleman F et al
113433782001Acute lymphoblastic leukemia in the elderly: The Edouard Herriot Hospital experience.Thomas X et al
76976381995Inversion 14q in acute lymphoblastic leukemia of B-lineage.Wong KF et al



This chromosome anomaly should not be confused with the t(14;14)(q11;q32)/inv(14)(q11q32) found in T-cell diseases, which implicates TCR alpha or TCR delta (14q11) and TCL1A (14q32).


Jean-Loup Huret

t(14;14)(q11;q32) CEBPE/IGH
inv(14)(q11q32) CEBPE/IGH

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/haematological/1438/inv(14)(q11q32)

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