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t(12;14)(p13;q32) IGH/ETV6

Written2005-08Jean-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
Atlas_Id 1368

Clinics and Pathology

Disease Acute lymphoblastic leukemia
Phenotype / cell stem origin pre B ALL.
Epidemiology Only one case to date; no age nor gender data.
Prognosis No data.

Cytogenetics

Cytogenetics Molecular Cryptic translocation; recognized by multicolor FISH plus locus-specific FISH.
Additional anomalies Hyperploidy (57 chromosomes).

Genes involved and Proteins

Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein 53 and 57 kDa; contains, from N-term to C- term, an helix-loop-helix (HLH) domain (or "sterile alpha domain" SAM) responsible of dimerization, and a sequence specific DNA-binding domain (ETS domain); binds to 5' CCGGAAGT 3'; ETV6 is a member of the ETS family of transcription factors; transcriptional repressor.
Gene NameIGH (Immunoglobulin Heavy)
Location 14q32.33

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.

Bibliography

The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia.
Lu XY, Harris CP, Cooley L, Margolin J, Steuber PC, Sheldon M, Rao PH, Lau CC
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (11) : 2222-2227.
PMID 12399965
 

Citation

This paper should be referenced as such :
Huret, JL
t(12;14)(p13;q32)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):30-30.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1214p13q32ID1368.html


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

Genes ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;14)(p13;q32) IGH/ETV6

External links

IGH (14q32.33) ETV6 (12p13.2)

Mitelman databaset(12;14)(p13;q32) [Case List]    t(12;14)(p13;q32) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseIGH/ETV6 [MCList]  IGH (14q32.33) ETV6 (12p13.2)
 
Disease databaset(12;14)(p13;q32) IGH/ETV6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Nov 20 21:38:01 CET 2017


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