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

2002-02-01 Jean-Loup Huret Affiliation

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 ID	Year	Title	Citations
34492730	2021	Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.	29
36848872	2023	Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.	28
16224488	2005	A rare case of acute myeloid leukemia with a CHIC2-ETV6 fusiongen and multiple other molecular aberrations.	0

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Article Bibliography

Pubmed ID	Last Year	Title	Authors
9130613	1997	Characterization of acute leukemia with t(4;12).	Harada H et al
10477709	1999	Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).	Cools J et al

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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

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 Affiliation

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