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

inv(14)(q11q32) CEBPE/IGH

Written2008-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1438
Note 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).

Clinics and Pathology

Disease CD10+ acute lymphoblastic leukaemia (B-ALL)
Epidemiology 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.
Clinics 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 NameCEBPE (CCAAT/enhancer binding protein epsilon)
Location 14q11.2
Protein 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 NameIGH (Immunoglobulin Heavy)
Location 14q32.33

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Overexpression of the CEBP gene.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.
Case Report A new case of translocation t(14;14)(q11;q32) in B lineage ALL


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, Balasas T, Russell LJ, Sugimoto KJ, Majid A, Walewska R, Karran EL, Brown DG, Cain K, Harder L, Gesk S, Martin-Subero JI, Atherton MG, Bruggemann M, Calasanz MJ, Davies T, Haas OA, Hagemeijer A, Kempski H, Lessard M, Lillington DM, Moore S, Nguyen-Khac F, Radford-Weiss I, Schoch C, Struski S, Talley P, Welham MJ, Worley H, Strefford JC, Harrison CJ, Siebert R, Dyer MJ.
Blood. 2007 Apr 15;109(8):3451-61. Epub 2006 Dec 14.
PMID 17170124
Concurrent presence of inv(14)(q11q32) and t(4;11)(q21;q23) in pre-B acute lymphoblastic leukemia.
Chervinsky DS, Grossi M, Kakati S, Block AW, Aplan PD.
Genes Chromosomes Cancer. 1995 Mar;12(3):229-36.
PMID 7536464
Common mechanism of chromosome inversion in B- and T-cell tumors: relevance to lymphoid development.
Denny CT, Hollis GF, Hecht F, Morgan R, Link MP, Smith SD, Kirsch IR.
Science. 1986 Oct 10;234(4773):197-200.
PMID 3092355
The C/EBP family of transcription factors: a paradigm for interaction between gene expression and proliferation control.
Nerlov C.
Trends Cell Biol. 2007 Jul;17(7):318-24. Epub 2007 Jul 19. (Review)
PMID 17658261
CCAAT/enhancer-binding proteins: structure, function and regulation.
Ramji DP, Foka P.
Biochem J. 2002 Aug 1;365(Pt 3):561-75. (Review)
PMID 12006103
Analysis of whole-arm translocations in malignant blood cells by nonisotopic in situ hybridization.
Speleman F, Mangelschots K, Vercruyssen M, Dal Cin P, Aventin A, Offner F, Laureys G, Van den Berghe H, Leroy.
Cytogenet Cell Genet. 1991;56(1):14-7.
PMID 2004549
Acute lymphoblastic leukemia in the elderly: The Edouard Herriot Hospital experience.
Thomas X, Olteanu N, Charrin C, Lhéritier V, Magaud JP, Fiere D.
Am J Hematol. 2001 Jun;67(2):73-83.
PMID 11343378
Inversion 14q in acute lymphoblastic leukemia of B-lineage.
Wong KF, Kwong YL, Wong TK.
Cancer Genet Cytogenet. 1995 Mar;80(1):72-4.
PMID 7697638


This paper should be referenced as such :
Huret, JL
t(14;14)(q11;q32) CEBPE/IGH - inv(14)(q11q32) CEBPE/IGH
Atlas Genet Cytogenet Oncol Haematol. 2009;13(5):376-377.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

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

External links

Mitelman databaseinv(14)(q11q32)
Mitelman databaset(14;14)(q11;q32)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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