t(4;12)(q12;p13) CHIC2/ETV6

2002-02-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
2.Laboratoire de Cytogénétique Hématologique, Institut Paoli-Calmettes, Marseille, France

Clinics and Pathology

Disease

AML and therapy related AL cases with t(4;12)(q11-12;p13); B-cell ALL cases seem to have a more distal breakpoint in 4q13 or 21

Phenotype stem cell origin

AML cases: M0, M1, and other subtypes; often CD7+; a stem cell may be involved; ALL cases are CD10+

Epidemiology

at least 17 available cases: 13 AML and 4 ALL; so far, AML cases with a proximal breakpoint in 4 q11 or 12 are adult cases (43-81 yrs), and ALL cases are children cases (3-14 yrs); balanced sex ratio

Prognosis

adult cases: response to therapy is poor and median survival might be a year

Genes Involved and Proteins

Gene name
CHIC2 (cystein-rich hydrophobic domain 2)
Location
4q12
Note
CHIC2 is involved in the AML cases; there is no data concerning ALL cases
Protein description
contains a transmembrane domain; member of a family of proteins with function in exocytosis.
Gene name
ETV6 (ets variant 6)
Location
12p13.2
Dna rna description
9 exons; alternate splicing
Protein description
contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the Chromosomal Anomaly

Description

5 CHIC2 - 3 ETV6N term CHIC2 with the first 110 amino acids (exons 1 to 3) fused to the441 C term amino acids (exons 2 to 8) of ETV6.

Highly cited references

Pubmed IDYearTitleCitations
344927302021Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.29
368488722023Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.28
162244882005A rare case of acute myeloid leukemia with a CHIC2-ETV6 fusiongen and multiple other molecular aberrations.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
104777091999Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).Cools J et al
91306131997Characterization of acute leukemia with t(4;12).Harada H et al

Summary

Fusion gene

CHIC2/ETV6 CHIC2 (4q12) ETV6 (12p13.2) M|CHIC2/ETV6 CHIC2 (4q12) ETV6 (12p13.2) M t(4;12)(q12;p13)|CHIC2/ETV6 CHIC2 (4q12) ETV6 (12p13.2) TIC

Note

it is likely that breakpoints are heterogeneous, with 2 distinct entities: t(4;12)(q11-12;p13) in AML, and t(4:12)(q13-21;p13) in ALL to be delineated
Atlas Image
t(4;12)(q11;p13) G-banding (left) - Courtesy Jacqueline Beerworth and Sarah Moore, and R-banding (right) - Courtesy Jean Philippe Rault

Citation

Jean-Loup Huret

t(4;12)(q12;p13) CHIC2/ETV6

Atlas Genet Cytogenet Oncol Haematol. 2002-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1010/t(4;12)(q12;p13)

Historical Card

1998-01-01 t(4;12)(q12;p13) CHIC2/ETV6 by  Jean-Loup Huret,Marina Lafage-Pochitaloff 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France