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t(14;21)(q11;q22) TRA/OLIG2

Written2004-11Jacques Boyer
Laboratoire d' hématologie, CH du MANS, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1180

Clinics and Pathology

Disease T-cell Acute lymphoblastic leukemia (T-ALL)
Epidemiology Rare.
Clinics One case reported: The patient was a 7-years-old female with high white blood count with lymphoblasts positive for T-cell antigens; cerebrospinal fluid négative for malignant cells; superior mediastinal mass.
Prognosis The patient attained a complete remission with standard chemotherapy but relapsed and died after 4 months of therapy.

Cytogenetics

Cytogenetics Morphological The t(14 ;21)(q11.2 ;q22)was accompanied with del(6)(q21). Cryptic t(14 ;21) translocation cases may exist.

Genes involved and Proteins

Gene Name TRA
Location 14q11.2
Protein T cell receptor
Gene Name OLIG2
Location 21q22
Note alias OLIG2
Dna / Rna This gene maps within a 9 to 12 Mb region of chromosome 21q22.
Protein This gene was shown to possess a helix-loop-helix (bHLH) motif witch inhibits the E2A function in transfection assays. E2A is required for normal T-cell differentiation.

Result of the chromosomal anomaly

Hybrid gene
Note Translocation of the BHLHB1 gene 130kb upstream of the TCRA enhancer. This translocation activates the BHLHB1 gene and produces high levels of BHLHB1 mRNA. Expression of HLHB1 inhibits E2A-mediated transcription activation in vitro.
  
Fusion Protein
Note No fusion protein.
Oncogenesis Several helix-loop-helix (HLH) proteins are proposed to function as transcriptionnal regulatory factors based on their ability to bind in vitro the E-box motif of transcriptional enhancers. The observation that ectopic BHLHB1 expression can onhibit E2A activity suggests that BHLHB1 exerts its leukemogenic effects through a functional inhibition of E2A.
  

Bibliography

Cytogenetic abnormalities in adult acute lymphoblastic leukemia: correlations with hematologic findings outcome. A Collaborative Study of the Groupe Français de Cytogénétique Hématologique.
Blood. 1996 ; 87 (8) : 3135-3142.
PMID 8605327
 
E2A deficiency leads to abnormalities in alphabeta T-cell development and to rapid development of T-cell lymphomas.
Bain G, Engel I, Robanus Maandag EC, te Riele HP, Voland JR, Sharp LL, Chun J, Huey B, Pinkel D, Murre C
Molecular and cellular biology. 1997 ; 17 (8) : 4782-4791.
PMID 9234734
 
The t(14;21)(q11.2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia activates the BHLHB1 gene.
Wang J, Jani-Sait SN, Escalon EA, Carroll AJ, de Jong PJ, Kirsch IR, Aplan PD
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (7) : 3497-3502.
PMID 10737801
 
t(5;14)(q33-34;q11), a new recurring cytogenetic abnormality in childhood acute leukemia.
Whitlock JA, Raimondi SC, Harbott J, Morris SW, McCurley TL, Hansen-Hagge TE, Ludwig WD, Weimann G, Bartram CR
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1994 ; 8 (9) : 1539-1543.
PMID 8090032
 

Citation

This paper should be referenced as such :
Boyer, J
t(14;21)(q11;q22)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):24-25.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1421q11q22ID1180.html


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

Genes OLIG2 TRA

Translocations implicated (Data extracted from papers in the Atlas)

 t(14;21)(q11;q22) TRA/OLIG2

External links

TRA (-) OLIG2 (21q22.11)

Mitelman databaset(14;21)(q11;q22) [Case List]    t(14;21)(q11;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseTRA/OLIG2 [MCList]  TRA (-) OLIG2 (21q22.11)
 
Disease databaset(14;21)(q11;q22) TRA/OLIG2
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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