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t(8;14)(q11;q32) IGH::CEBPD

Written2008-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
2005-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
1999-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1112
  - 8, + der(14) t(8;14)(q11;q32) G banding (left) - Courtesy Gitte Birk Kerndrup and Steen Rosthoj; der(14) t(8;14)(q11;q32) R-banding - Courtesy Pascale Cornillet-Lefebvre and Stephanie Struski (top), and with a constitutional trisomy 21 (bottom) - Courtesy Petr Balicek, Jana Rabasova, and Jiri Hak. More iconography can be found in the Case Report section (see below).

Clinics and Pathology

Disease CD10+ acute lymphoblastic leukemia (ALL) in most cases; chronic myelogenous leukemia (CML) very rarely; one case of histiocyte-rich B-cell lymphoma.
Etiology Strikingly, more than 1/4 of cases are Down syndrome patients.
Epidemiology At least 52 cases to date (see Ref. below); the t(8;14)(q11;q32) represents about 1/1 000 cases of childhood leukemias; median age is 11 yrs (range 3-49), with 10% above 20 yrs; unbalanced sex ratio (29M/18F).
Clinics Organomegaly is not frequent, central nervous system (CNS) involvement was not noted; WBC was < 50 X 109/l in most cases.
Prognosis Prognosis is likely to be not bad, although a long follow up is missing in about half of the cases (see Figure 2).


Cytogenetics Morphological Sole (acquired) anomaly in 1/3 of cases; accompany a t(9;22)(q34;q11) in 20% of cases; unbalanced form with a der(14) t(8;14) in 15% of cases, indicating that the crucial event is likely to lie on der(14). One case was a three way translocation t(2;14;8).
Additional anomalies t(8;14) may be found with t(9;22) (see above); t(8;14) is accompanied by an acquired (not constitutional) +21 in 10% of cases; +X, +8, and del(13q) are also recurrently found with t(8;14).

Genes involved and Proteins

Gene NameCEBPD (CCAAT/enhancer binding protein delta)
Location 8q11.21
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), CEBPE (14q11), 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. CEBPD is composed of a N-term transactivation 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

Case Report A case of pre-B ALL with t(8;14)(q11;q32)
Case Report A case of Down syndrome with acute lymphoblastic leukemia and t(8;14)(q11;q32)
Case Report A new case of t(8;14)(q11;q32) in an acute lymphoblastic leukemia


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
Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias.
Andreasson P, Hoglund M, Bekassy AN, Garwicz S, Heldrup J, Mitelman F, Johansson B.
European journal of haematology. 2000 ; 65 (1) : 40-51.
PMID 10914938
A case of Down syndrome with acute lymphoblastic leukemia and t(8;14)(q11;q32).
Balicek P, Rabasova J, Hak J.
Atlas Genet Cytogenet Oncol Haematol. June 2001.
Three further cases of t(8;14)(q11.2;q32) in acute lymphoblastic leukemia.
Byatt SA, Cheung KL, Lillington DM, Mazzullo H, Martineau M, Bennett C, Roberts K, Harewood L, Sumption N, Humphreys M, Burrett J, Harrison CJ.
Leukemia. 2001 Aug;15(8):1304-5.
PMID 11480576
Lack of association between abnormalities of the chromosome 9 short arm and either lymphomatous features or T cell phenotype in childhood acute lymphocytic leukemia.
Carroll AJ, Castleberry RP, Crist WM.
Blood. 1987 ; 69 (3) : 735-738.
PMID 3493041
Philadelphia chromosome positive childhood acute lymphoblastic leukemia: clinical and cytogenetic characteristics and treatment outcome. A Pediatric Oncology Group study.
Crist W, Carroll A, Shuster J, Jackson J, Head D, Borowitz M, Behm F, Link M, Steuber P, Ragab A.
Blood. 1990 ; 76 (3) : 489-494.
PMID 2378982
Bone marrow transplantation for adults with acute leukaemia and 11q23 chromosomal abnormalities.
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PMID 9858210
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Blood. 1990 ; 76 (1) : 150-156.
PMID 2364166
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Hayata I, Sakurai M, Kakati S, Sandberg AA.
Cancer. 1975 ; 36 (4) : 1177-1191.
PMID 1058043
Abnormalities of chromosome bands 13q12 to 13q14 in childhood acute lymphoblastic leukemia.
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J Clin Oncol. 2000 Nov 15;18(22):3837-44.
PMID 11078497
Cytogenetic analysis of 51 patients with chronic myeloid leukemia.
Hu N, Bian ML, Le Beau MM, Rowley JD.
Chinese medical journal. 1990 ; 103 (10) : 831-839.
PMID 2125257
Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group Study.
Kaleem Z, Shuster JJ, Carroll AJ, Borowitz MJ, Pullen DJ, Camitta BM, Zutter MM, Watson MS.
Leukemia. 2000 Feb;14(2):238-40.
PMID 10673739
Childhood acute lymphoblastic leukemia associated with an unusual 8;14 translocation.
Kardon NB, Slepowitz G, Kochen JA.
Cancer genetics and cytogenetics. 1982 ; 6 (4) : 339-343.
PMID 6956438
A case of pre-B ALL with t(8;14)(q11;q32).
Kerndrup GB, Rosthoj S
Atlas Genet Cytogenet Oncol Haematol. June 2001.
Down syndrome, acute lymphoblastic leukemia, and t(8;14)(q11;q32).
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Cancer Genet Cytogenet. 1996 May;88(1):92.
PMID 8630990
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Litz CE, Davies S, Brunning RD, Kueck B, Parkin JL, Gajl Peczalska K, Arthur DC.
Leukemia 1995 ; 9 (9) : 1432-1439.
PMID 7658708
Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia.
Mathew S, Rao PH, Dalton J, Downing JR, Raimondi SC.
Leukemia. 2001 Mar;15(3):468-72.
PMID 11237073
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PMID 12581891
The C/EBP family of transcription factors: a paradigm for interaction between gene expression and proliferation control.
Nerlov C.
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PMID 17658261
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PMID 1571550
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PMID 8315434
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Atlas Genet Cytogenet Oncol Haematol. May 2003 .
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This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(5):388-390.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(8;14)(q11;q32). Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):196-197.
Huret, JL. t(8;14)(q11;q32). Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):252-254.

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes IGH

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;14)(q11;q32) IGH/CEBPD

External links

IGH (14q32.33) CEBPD (8q11.21)

Mitelman databaset(8;14)(q11;q32)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseIGH::CEBPD [MCList]  IGH (14q32.33) CEBPD (8q11.21)
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