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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(12;15)(p13;q25) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: January 2008 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t1215p13q25ID1347.html DOI: 10.4267/2042/44405 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology Fusion protein Clinics and pathology Description Encodes a fusion protein with the sterile alpha motif (SAM) oligomerization domain of ETV6 in N-term to the C- term protein tyrosine kinase (PTK) domain of NTRK3. Oncogenesis Functions as a constitutively active tyrosine kinase. ETV6-NTRK3 is capable of homodimerization, or heterodimerization with ETV6, and subsequent PTK activation, leading to constitutive elevation of cyclin D1, and increased cell cycle progression. ETV6NTRK3 also leads to constitutive activation of two of the major effector pathways of NTRK3: the RasMAPK mitogenic pathway and the phosphatidyl inositol-3-kinase (PI3K) pathway leading to activation of the AKT cell survival factor (Lannon and Sorensen, 2005). Disease Acute myeloid leukaemia (AML), FAB M2 subtype. Epidemiology Only one case to date, a 59-year-old female patient. Prognosis The patient died 5 months after the onset of the leukaemia. Cytogenetics Additional anomalies +8 and other anomalies. Genes involved and proteins ETV6 To be noted Location 12p13 Protein ETS-related transcription regulator. Note The same translocation t(12;15)(p13;q25) with the same genes involved (ETV6-NTRK3) can also be found in: Secretory Ductal Breast Carcinoma , in Congenital Mesoblastic Nephroma, and in Congenital Fibrosarcoma. NTRK3 Location 15q25 Protein Tyrosine kinase cell surface receptor. References Setoyama M, Tojo A, Nagamura F, Asano S, Ishimae M, Eguchi M, Kamada N. A unique translocation of the TEL gene in a case of acute myelogenous leukemia with inv(12)(p13q15) Blood. 1998 Aug 15;92(4):1454-5 Result of the chromosomal anomaly Eguchi M, Eguchi-Ishimae M, Tojo A, Morishita K, Suzuki K, Sato Y, Kudoh S, Tanaka K, Setoyama M, Nagamura F, Asano S, Kamada N. Fusion of ETV6 to neurotrophin-3 receptor TRKC in acute myeloid leukemia with t(12;15)(p13;q25). Blood. 1999 Feb 15;93(4):1355-63 Hybrid gene Description 5' ETV6-3' NTRK3 Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2) 130 t(12;15)(p13;q25) Huret JL Lannon CL, Sorensen PH. ETV6-NTRK3: a chimeric protein tyrosine kinase with transformation activity in multiple cell lineages. Semin Cancer Biol. 2005 Jun;15(3):215-23 Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2) This article should be referenced as such: Huret JL. t(12;15)(p13;q25). Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2):130-131. 131