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

Written2002-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1998-01Jean-Loup Huret, Marina Lafage-Pochitaloff
Laboratoire de Cytogénétique Hématologique, Institut Paoli-Calmettes, Marseille, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1010
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

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 / cell stem 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


Additional anomalies none in 7/14 cases (all 7 cases are AML); del(6q) has recurrently been found in ALL; -7 would be recurrent if only 1 entity exists; the karyotype in ALL cases can be complex

Genes involved and Proteins

Gene NameCHIC2 (cystein-rich hydrophobic domain 2)
Location 4q12
Note CHIC2 is involved in the AML cases; there is no data concerning ALL cases
Protein contains a transmembrane domain; member of a family of proteins with function in exocytosis.
Gene NameETV6 (ets variant 6)
Location 12p13.2
Dna / Rna 9 exons; alternate splicing
Protein contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the chromosomal anomaly

Hybrid gene
Description 5' CHIC2 - 3' ETV6
Fusion Protein
Description N 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.

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.
Case Report The rare t(4;12)(q11;p13) in an elderly patient with de novo AML with multilineage dysplasia co-expressing stem cell markers
Case Report t(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia
Case Report A new case of t(4;12)(q12;p13) in a secondary acute myeloid leukemia with review of literature
Case Report Patient with t(4;12)(q11;p13) with therapy-related MDS and known history of stage II metastatic colorectal cancer


Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).
Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P
Blood. 1999 ; 94 (5) : 1820-1824.
PMID 10477709
Characterization of acute leukemia with t(4;12).
Harada H, Harada Y, Eguchi M, Dohy H, Kamada N
Leukemia & lymphoma. 1997 ; 25 (1-2) : 47-53.
PMID 9130613


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):130-131.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL ; Lafage-Pochitaloff, M. t(4;12)(q11-q21;p13). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):26-26.

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

Genes CHIC2 ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 t(4;12)(q12;p13) CHIC2/ETV6

External links

CHIC2 (4q12) ETV6 (12p13.2)

CHIC2 (4q12) ETV6 (12p13.2)

CHIC2 (4q12) ETV6 (12p13.2)

Mitelman databaset(4;12)(q12;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseCHIC2/ETV6 [MCList]  CHIC2 (4q12) ETV6 (12p13.2)
Mitelman databaseCHIC2/ETV6 [MCList]  CHIC2 (4q12) ETV6 (12p13.2)
TICdbCHIC2/ETV6  CHIC2 (4q12) ETV6 (12p13.2)
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