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

2006-08-01   María D Odero 

1.Departamento de Genética, Facultad de Ciencias Àrea de Oncología, Centro de Investigaciò_n Médica Aplicada (CIMA) Universidad de Navarra, 31008 Pamplona, España

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 stem cell origin

B lineage.

Prognosis

No prognosis value established.

Cytogenetics

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 (ets variant 6)
Location
12p13.2
Note
The gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.
Dna rna description
9 exons; alternate splicing.
Protein description
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 (cyclin D3)
Location
6p21.1
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 description
.
Protein description
.

Result of the Chromosomal Anomaly

Description

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

Bibliography

Pubmed IDLast YearTitleAuthors
113198012001Identification of new translocations involving ETV6 in hematologic malignancies by fluorescence in situ hybridization and spectral karyotyping.Odero MD et al
29103651989Immunophenotype-karyotype associations in human acute lymphoblastic leukemia.Uckun FM et al

Summary

Atlas Image
t(6;12)(p21;p13) G-banding

Citation

María D Odero

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

Atlas Genet Cytogenet Oncol Haematol. 2006-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1424/t(6;12)(p21;p13)-ccnd3-etv6-in-lymphoid-malignancies

External Links