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t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies

Written2006-08Maria D Odero
Departamento de Genética, Facultad de Ciencias Àrea de Oncología, Centro de Investigaciò_n Médica Aplicada (CIMA) Universidad de Navarra, 31008 Pamplona, España

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1424
  t(6;12)(p21;p13) G-banding

Clinics and Pathology

Disease t(6;12)(p21;p13) has been described in only 6 cases: chronic lymphocytic leukemia (CLL); acute lymphoblastic leukemia (ALL), diffuse large B-cell lymphoma; acute myeloid leukemia (AML), NOS; myelodysplastic syndrome (MDS), RAEB-2; and breast adenocarcinoma.
Phenotype / cell stem origin B lineage.
Prognosis No prognosis value established.


Cytogenetics Morphological May be not easy to detect.
Cytogenetics Molecular In CLL, the translocation was detected by FISH with ETV6 probes. The ETV6 gene is rearranged, and the breakpoint is between exon 1 and exon 2.
Additional anomalies -9 and der(16)t(9;16)(q21;q24) in CLL; and del(7)(p13p22) in ALL.
Variants No variants in CLL and ALL.

Genes involved and Proteins

Gene Name ETV6
Location 12p13
Note The gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.
Dna / Rna 9 exons; alternate splicing.
Protein The gene encodes an ETS family transcription factor; the product of this gene contains a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions, and a C-terminal ETS DNA-binding domain; wide expression; nuclear localization.
Gene Name CCND3
Location 6p21
Note Could be the putative gene involved on 6p21. No molecular studies on 6p21 are described in cases with t(6;12). In t(6;14)(p21;q32), the breakpoint is centromeric to the CCND3 gene, causing dysregulation and overexpression of CCND3.
Dna / Rna .
Protein .

Result of the chromosomal anomaly

Fusion Protein
Description In CLL the ETV6 gene is rearranged; the breakpoint in ETV6 is between exon 1 and exon 2.

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.


Identification of new translocations involving ETV6 in hematologic malignancies by fluorescence in situ hybridization and spectral karyotyping.
Odero MD, Carlson K, Calasanz MJ, Lahortiga I, Chinwalla V, Rowley JD
Genes, chromosomes & cancer. 2001 ; 31 (2) : 134-142.
PMID 11319801
Immunophenotype-karyotype associations in human acute lymphoblastic leukemia.
Uckun FM, Gajl-Peczalska KJ, Provisor AJ, Heerema NA
Blood. 1989 ; 73 (1) : 271-280.
PMID 2910365


This paper should be referenced as such :
Odero, MD
t(6;12)(p21;p13) in lymphoid malignancies
Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):30-31.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies

External links

Mitelman databaset(6;12)(p21;p13) [Case List]    t(6;12)(p21;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaset(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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