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.

Result of the Chromosomal Anomaly

Description

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

Article 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