Genfusionen: Die Suche nach der Nadel im Heuhaufen hat begonnen!

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AutorIn: Univ.-Doz. Dr. Holger Rumpold

Ordensklinikum Linz


  1. Mitelman, F., Johansson, B. & Mertens, F. Mitelman database of chromosome aberrations and gene fusions in cancer. National Cancer Institute [online], http://cgap.nci.nih.gov/Chromosomes/Mitelman (2015).
  2. Nowell, P. C. & Hungerford, D. A. A minute chromosome in human chronic granulocytic leukemia. Science 132, 1497 (1960).
  3. Caspersson, T., Zech, L. & Johansson, C. Differential binding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60, 315–319 (1970).
  4. Rowley, J. D. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243, 290–293 (1973).
  5. Rowley, J. D. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann. Genet. 16, 109–112 (1973).
  6. Zech, L., Haglund, U., Nilsson, K. & Klein, G. Characteristic chromosomal abnormalities in biopsies and lymphoid-cell lines from patients with Burkitt and non-Burkitt lymphomas. Int. J. Cancer 17, 47–56 (1976).
  7. Ohno, S. et al. Nonrandom chromosome changes involving the Ig gene-carrying chromosomes 12 and 6 in pristane-induced mouse plasmacytomas. Cell 18, 1001–1007 (1979).
  8. Seidal, T., Mark, J., Hagmar, B. & Angervall, L. Alveolar rhabdomyosarcoma: a cytogenetic and correlated cytological and histological study. APMIS 90, 345–354 (1982).
  9. de Jong, B., Molenaar, I. M., Leeuw, J. A., Idenberg, V. J. S. & Oosterhuis, J. W. Cytogenetics of a renal adenocarcinoma in a 2‑year-old child. Cancer Genet. Cytogenet. 21, 165–169 (1986).
  10. Stenman, G., Sandros, J., Dahlenfors, R., Juberg-Ode, M. & Mark, J. 6q- and loss of the Y chromosome – two common deviations in malignant human salivary gland tumors. Cancer Genet. Cytogenet. 22, 283–293 (1986).
  11. Mark, J., Dahlenfors, R., Ekedahl, C. & Stenman, G. The mixed salivary gland tumor – a normally benign human neoplasm frequently showing specific chromosomal abnormalities. Cancer Genet. Cytogenet. 2, 231–241 (1980).
  12. Tomlins, S. A. et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310, 644–648 (2005).
  13. Campbell, P. et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nature Genet. 40, 722–729 (2008).
  14. Leder, P. et al. Translocations among antibody genes in human cancer. Science 222, 765–771 (1983).
  15. Croce, C. M. & Nowell, P. C. Molecular basis of neoplasia. Blood 65, 1–7 (1985).
  16. Klein, G. & Klein, E. Conditioned tumorigenicity of activated oncogenes. Cancer Res. 46, 3211–3224 (1986).
  17. Erikson, J. et al. Deregulation of c‑myc by translocation of the α-locus of the T‑cell receptor in T‑cell leukemias. Science 232, 884–886 (1986).
  18. Hayashi, Y., Yamamoto, K. & Kojima, S. T‑cell acute lymphoblastic leukemias with a t(8;14) possibly involving a c‑myc locus and T‑cell-receptor α-chain genes. N. Engl. J. Med. 314, 650–651 (1986).
  19. Mathieu-Mahul, D. et al. A t(8;14)(q24;q11) translocation in a T‑cell leukemia (L1‑ALL) with c‑myc and TcR-α chain locus rearrangements. Int. J. Cancer 38, 835–840 (1986).
  20. McKeithan, T. W. et al. Molecular cloning of the breakpoint junction of a human chromosomal 8;14 translocation involving the T‑cell receptor α-chain gene and sequences on the 3´ side of MYC. Proc. Natl Acad.Sci. USA 83, 6636–6640 (1986).
  21. Van Vlierberghe, P. & Ferrando, A. The molecular basis of T cell acute lymphoblastic leukemia. J. Clin. Invest. 122, 3398–3406 (2012).
  22. Kas, K. et al. Promoter swapping between the genes for a novel zinc finger protein and β-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. Nature Genet. 15, 170–174 (1997).
  23. Shtivelman, E., Lifshitz, B., Gale, R. P. & Canaani, E. Fused transcript of abl and bcr genes in chronic myelogenous leukaemia. Nature 315, 550–554 (1985).
  24. Stam, K. et al. Evidence of a new chimeric bcr/c‑abl mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome. N. Engl. J. Med. 313, 1429–1433 (1985).
  25. de Thé, H., Chomienne, C., Lanotte, M., Degos, L. &Dejean, A. The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor α gene to a novel transcribed locus. Nature 347, 558–561 (1990).
  26. Lemons, R. S. et al. Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes Chromosomes Cancer 2, 79–87 (1990).
  27. Delattre, O. et al. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 359, 162–165 (1992).
  28. Pierotti, M. A. et al. Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. Proc. Natl Acad. Sci. USA 89, 1616–1620 (1992).
  29. Schoenmakers, E. F. P. M. et al. Recurrent rearrangements in the high mobility group protein gene, HMGI‑C, in benign mesenchymal tumours. Nature Genet. 10, 436–444 (1995).

SO 06|2020

Herausgeber: Univ.-Prof. Dr. Matthias Preusser, Univ.-Prof. Dr. Markus Raderer
Publikationsdatum: 2020-10-27