t(8;14)(q11;q32) IGH/CEBPD
2008-05-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
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).
Genes Involved and Proteins
Gene name
CEBPD (CCAAT/enhancer binding protein delta)
Location
8q11.21
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), 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 name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Result of the Chromosomal Anomaly
Oncogenesis
Overexpression of the CEBP gene.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17170124 | 2007 | 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 et al |
| 10914938 | 2000 | Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias. | Andreasson P et al |
| 11480576 | 2001 | Three further cases of t(8;14)(q11.2;q32) in acute lymphoblastic leukemia. | Byatt SA et al |
| 3493041 | 1987 | 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 et al |
| 2378982 | 1990 | Philadelphia chromosome positive childhood acute lymphoblastic leukemia: clinical and cytogenetic characteristics and treatment outcome. A Pediatric Oncology Group study. | Crist W et al |
| 9858210 | 1998 | Bone marrow transplantation for adults with acute leukaemia and 11q23 chromosomal abnormalities. | Forrest DL et al |
| 2364166 | 1990 | 14q32 translocations are associated with mixed-lineage expression in childhood acute leukemia. | Hayashi Y et al |
| 1058043 | 1975 | Chromosomes and causation of human cancer and leukemia. XVI. Banding studies of chronic myelocytic leukemia, including five unusual Ph11 translocations. | Hayata I et al |
| 11078497 | 2000 | Abnormalities of chromosome bands 13q12 to 13q14 in childhood acute lymphoblastic leukemia. | Heerema NA et al |
| 2125257 | 1990 | Cytogenetic analysis of 51 patients with chronic myeloid leukemia. | Hu N et al |
| 10673739 | 2000 | Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group Study. | Kaleem Z et al |
| 6956438 | 1982 | Childhood acute lymphoblastic leukemia associated with an unusual 8;14 translocation. | Kardon NB et al |
| 8630990 | 1996 | Down syndrome, acute lymphoblastic leukemia, and t(8;14)(q11;q32). | Lee AC et al |
| 7658708 | 1995 | Acute leukemia and the transient myeloproliferative disorder associated with Down syndrome: morphologic, immunophenotypic and cytogenetic manifestations. | Litz CE et al |
| 11237073 | 2001 | Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia. | Mathew S et al |
| 12581891 | 2003 | Acute lymphoblastic leukemia characterized by t(8;14)(q11.2;q32). | Moore S et al |
| 17658261 | 2007 | The C/EBP family of transcription factors: a paradigm for interaction between gene expression and proliferation control. | Nerlov C et al |
| 1571550 | 1992 | Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases. | Pui CH et al |
| 8315434 | 1993 | Immunophenotypes and karyotypes of leukemic cells in children with Down syndrome and acute lymphoblastic leukemia. | Pui CH et al |
| 12006103 | 2002 | CCAAT/enhancer-binding proteins: structure, function and regulation. | Ramji DP et al |
| 8580796 | 1995 | 17p anomalies in lymphoid malignancies: diagnostic and prognostic implications. | Schoch C et al |
| 8242599 | 1993 | Two Down syndrome patients with an acquired translocation, t(8;14)(q11;q32), in early B-lineage acute lymphoblastic leukemia. | Secker-Walker LM et al |
| 8259105 | 1994 | Neurofibromatosis type I and malignancy: review of 32 pediatric cases treated at a single institution. | Shearer P et al |
| 9385944 | 1997 | Histiocyte-rich B-cell lymphoma. | Sun T et al |
| 8504400 | 1993 | t(8;14)(q11;q32) in acute lymphoid leukemia: description of two cases. | Testoni N et al |
| 9922041 | 1998 | Accumulation of methotrexate polyglutamates, ploidy and trisomies of both chromosomes 4 and 10 in lymphoblasts from children with B-progenitor cell acute lymphoblastic leukemia: a Pediatric Oncology Group Study. | Whitehead VM et al |
| 1997533 | 1991 | Chromosomes in childhood acute lymphoblastic leukaemia: karyotypic patterns in disease subtypes. | Wodzinski MA et al |
Summary
Fusion gene
IGH/CEBPD IGH (14q32.33) CEBPD (8q11.21) M t(8;14)(q11;q32)
- 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).
Citation
Jean-Loup Huret
t(8;14)(q11;q32) IGH/CEBPD
Atlas Genet Cytogenet Oncol Haematol. 2008-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1112/t(8;14)(q11;q32)-igh-cebpd
Historical Card
2005-05-01 t(8;14)(q11;q32) IGH/CEBPD by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
1999-11-01 t(8;14)(q11;q32) IGH/CEBPD by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
