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

Written1999-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2005-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2008-05Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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

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

Bibliography

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Citation

This paper should be referenced as such :
Huret, JL
t(8;14)(q11;q32)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(5):388-390.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0814ID1112.html
History of this paper:
Huret, JL. t(8;14)(q11;q32). Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):196-197.
http://documents.irevues.inist.fr/bitstream/handle/2042/37562/11-1999-t0814ID1112.pdf
Huret, JL. t(8;14)(q11;q32). Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):252-254.
http://documents.irevues.inist.fr/bitstream/handle/2042/38224/05-2005-t0814ID1112.pdf


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) [Case List]    t(8;14)(q11;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseIGH/CEBPD [MCList]  IGH (14q32.33) CEBPD (8q11.21)
 
Disease databaset(8;14)(q11;q32) IGH/CEBPD
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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