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t(12;13)(p12;q12-14) ETV6::CDX2

Written2000-04Nick CP Cross
Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1204

Clinics and Pathology

Disease chronic myelogenous leukemia (CML) in transformation, myelodysplastic syndrome (MDS), acute non lymphocytic leukemai (AML), B and T- acute lymphocytic leukemias (ALL)


Additional anomalies no consistent additional abnormalities

Genes involved and Proteins

Gene NameETV6 (ets variant 6)
Location 12p13.2
Gene NameCDX2 (caudal-related homeobox 2)
Location 13q12.2

To be noted

The t(12;13) is heterogeneous at the molecular level. A single case of AML has been reported with an ETV6-CDX2 fusion and ectopic expression of normal CDX2 but in the same study two other t(12;13) positive AML patients did not have CDX2 involvement. FISH analysis has suggested that the chromosome 13 breakpoints are different in myeloid and lymphoid disease. ETV6 seems to be involved in some cases but not others.
Additional cases with charaterization of the genes involved in the translocation, are therefore needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12).
Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC
Blood. 1999 ; 93 (3) : 1025-1031.
PMID 9920852
Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.
Coignet LJ, Lima CS, Min T, Streubel B, Swansbury J, Telford N, Swanton S, Bowen A, Nagai M, Catovsky D, Fonatsch C, Dyer MJ
Genes, chromosomes & cancer. 1999 ; 25 (3) : 222-229.
PMID 10379868
Duplication of the der(13)t(12;13)(p13;q14) in chronic myelomonocytic leukemia.
Fugazza G, Cerri R, Bruzzone R, Patrone F, Sessarego M
Haematologica. 1997 ; 82 (3) : 336-337.
PMID 9234584
Molecular delineation of 13q deletion boundaries in 20 patients with myeloid malignancies.
La Starza R, Wlodarska I, Aventin A, Falzetti D, Crescenzi B, Martelli MF, Van den Berghe H, Mecucci C
Blood. 1998 ; 91 (1) : 231-237.
PMID 9414289
New recurring chromosomal translocations in childhood acute lymphoblastic leukemia.
Raimondi SC, Privitera E, Williams DL, Look AT, Behm F, Rivera GK, Crist WM, Pui CH
Blood. 1991 ; 77 (9) : 2016-2022.
PMID 2018838
Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with AML or MDS and abnormalities of the short arm of chromosome 12.
Streubel B, Sauerland C, Heil G, Freund M, Bartels H, Lengfelder E, Wandt H, Ludwig WD, Nowotny H, Baldus M, Grothaus-Pinke B, Büchner T, Fonatsch C
British journal of haematology. 1998 ; 100 (3) : 521-533.
PMID 9504635
Reciprocal translocation t(12;13)(p13;q14) in acute nonlymphoblastic leukemia: report and cytogenetic analysis of two cases.
Tosi S, Stilgenbauer S, Giudici G, Capalbo S, Specchia G, Liso V, Castagna S, Lanzi E, Lichter P, Biondi A
Cancer genetics and cytogenetics. 1994 ; 77 (2) : 106-110.
PMID 7954318
Fluorescence in situ hybridization characterization of new translocations involving TEL (ETV6) in a wide spectrum of hematologic malignancies.
Wlodarska I, La Starza R, Baens M, Dierlamm J, Uyttebroeck A, Selleslag D, Francine A, Mecucci C, Hagemeijer A, Van den Berghe H, Marynen P
Blood. 1998 ; 91 (4) : 1399-1406.
PMID 9454771


This paper should be referenced as such :
Cross, NCP
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):78-79.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes CDX2 ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;13)(p12;q12) ETV6/CDX2

External links

ETV6 (12p13.2) CDX2 (13q12.2)

ETV6 (12p13.2) CDX2 (13q12.2)

Mitelman databaset(12;13)(p12;q12)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [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 ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseETV6::CDX2 [MCList]  ETV6 (12p13.2) CDX2 (13q12.2)
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