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t(1;12)(q25;p13) ETV6/ABL2

Written2000-02Jean-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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1147

Clinics and Pathology

Disease acute myeloid leukemia (AML)
Phenotype / cell stem origin M4Eo AML
Epidemiology only one case available

Cytogenetics

Cytogenetics Morphological a cryptic inv(16) was present, ascertained by a CBFb/MYH11 rearrangement; there fore, the t(1;12) may be a secondary anomaly

Genes involved and Proteins

Gene Name ABL2
Location 1q25
Protein tyrosine kinase; closely related to ABL1
Gene Name ETV6
Location 12p13
Dna / Rna alternative transcripts
Protein belong to the ETS transcription factors family characterized by the ETS domain, domain which is responsible for the sequence specific DNA-binding activity

Result of the chromosomal anomaly

Hybrid gene
Transcript both reciprocal transcripts are detected
  
Fusion Protein
Description the fusion protein is composed of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2
  

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 tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts.
Cazzaniga G, Tosi S, Aloisi A, Giudici G, Daniotti M, Pioltelli P, Kearney L, Biondi A
Blood. 1999 ; 94 (12) : 4370-4373.
PMID 10590083
 
NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15).
Nakamura T, Yamazaki Y, Hatano Y, Miura I
Blood. 1999 ; 94 (2) : 741-747.
PMID 10397741
 

Citation

This paper should be referenced as such :
Huret, JL
t(1;12)(q25;p13)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):29-29.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0112ID1147.html


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

Genes ABL2 ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;12)(q25;p13) ETV6/ABL2

External links

ETV6 (12p13.2) ABL2 (1q25.2)

ETV6 (12p13.2) ABL2 (1q25.2)

Mitelman databaset(1;12)(q25;p13) [Case List]    t(1;12)(q25;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseETV6/ABL2 [MCList]  ETV6 (12p13.2) ABL2 (1q25.2)
TICdbETV6/ABL2  ETV6 (12p13.2) ABL2 (1q25.2)
 
Disease databaset(1;12)(q25;p13) ETV6/ABL2
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.