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Download Leukaemia Section t(2;13)(p16;q12) Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Short Communication t(2;13)(p16;q12) Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France Published in Atlas Database: September 2007 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0213p16q12ID1212.html DOI: 10.4267/2042/38586 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2008 Atlas of Genetics and Cytogenetics in Oncology and Haematology pathways, such as the Ras/Raf/MAPK and PI3 kinase cascades. Clinics and pathology Disease Results of the chromosomal anomaly Myeloproliferative disorder (atypical chronic myelogenous leukaemia (a-CML)). Note: BCR-ABL negative myeloproliferative disease undistinguishable from CML otherwise. Hybrid gene Only one case to date, a 32-year-old female patient. Description Fusion of exon 3 of SPTBN1 and exon 13 of FLT3. Prognosis Fusion protein Unknown; the patient received bone marrow transplantation, relapsed 4 years later, and was in complete remission 6 months after treatment of the relapse. Description Encodes a 66 kDa protein which retains the 2 coiledcoil domains of SPTBN1 and the tyrosine kinase domain of FLT3. Expression localisation Expresssion of the fusion protein transformed Ba/F3 cells to growth factor independance. Oncogenesis Constitutive phosphorylation. Epidemiology Genes involved and Proteins SPTBN1 Protein Scaffold protein; forms homo-tetrameres; nonerythrocytic beta-spectrin; joins the actin cytoskeleton to the plasma membrane. References Grand FH, Iqbal S, Zhang L, Russell NH, Chase A, Cross NC. A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy. Exp Hematol 2007 Aug 29;35(11):1723-1727. FLT3 Location: 13q12 Protein Class III receptor tyrosine kinase (RTK); promotes signalling through posphorylation of multiple proteins and activation of several downstream signalling Atlas Genet Cytogenet Oncol Haematol. 2008;12(5) This article should be referenced as such: Huret JL. t(2;13)(p16;q12). Atlas Genet Cytogenet Oncol Haematol.2008;12(5):405. 405
