Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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)


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 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 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

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.


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


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 :

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)
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)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 16:36:04 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us