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.


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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