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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review t(6;12)(p21;p13) in lymphoid malignancies Maria D Odero Division of Oncology, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain Published in Atlas Database: August 2006 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0612p21p13ID1424.html DOI: 10.4267/2042/38382 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology Variants No variants in CLL and ALL. Identity Genes involved and Proteins 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. t(6;12)(p21;p13) G-banding. Clinics and pathology Disease t(6;12)(p21;p13) has been described in only 6 chronic lymphocytic leukemia (CLL); lymphoblastic leukemia (ALL), diffuse large lymphoma ; acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), RAEB-2 breast adenocarcinoma. cases: acute B-cell NOS; ; and Phenotype / cell stem origin B lineage. CCND3 (cyclin D3) Prognosis 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. No prognosis value established. Cytogenetics Cytogenetics morphological May be not easy to detect. Results of the chromosomal anomaly 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. Fusion protein Description In CLL the ETV6 gene is rearranged; the breakpoint in ETV6 is between exon 1 and exon 2. Additional anomalies -9 and der(16)t(9;16)(q21;q24) del(7)(p13p22) in ALL. in CLL; Atlas Genet Cytogenet Oncol Haematol. 2007;11(1) and 30 t(6;12)(p21;p13) in lymphoid malignancies Odero MD in hematologic malignancies by fluorescence in situ hybridization and spectral karyotyping. Cancer 2001;31:134142. References Uckun FM, Gajl-Peczalska KJ, Provisor AJ, Heerema NA. Immunophenotype-karyotype associations in human acute lymphoblastic leukemia. Blood 1989;73:271-280. This article 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. Odero MD, Carlson K, Calasanz MJ, Lahortiga I, Chinwalla V, Rowley JD. Identification of new translocations involving ETV6 Atlas Genet Cytogenet Oncol Haematol. 2007;11(1) 31