| Written | 2006-08 | Maria D Odero |
| Departamento de Genética, Facultad de Ciencias Àrea de Oncología, Centro de Investigaciò_n Médica Aplicada (CIMA) Universidad de Navarra, 31008 Pamplona, España |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 |
| 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 | 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 (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 | . |
| Protein | . |
| Result of the chromosomal anomaly |
| 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. |
| Bibliography |
| 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 |
| Citation |
| 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 : http://AtlasGeneticsOncology.org/Anomalies/t0612p21p13ID1424.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sun Jul 12 19:46:02 CEST 2020 |
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