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

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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)

1. Identity

ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1147

2. Clinics and Pathology

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

3. 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

4. Genes involved and Proteins

Gene NameABL2 (Abelson homolog 2)
Location 1q25.2
Protein tyrosine kinase; closely related to ABL1
Gene NameETV6 (ets variant 6)
Location 12p13.2
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

5. 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

6. 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.

7. 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

8. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):29-29.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0112ID1147.html

9. Translocations implicated (Data extracted from papers in the Atlas)

 t(1;12)(q25;p13) ETV6/ABL2

10. 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) [Transloc-MCList] ETV6/ABL2 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:17:45 CET 2018

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