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Case Reports in Genetics
Volume 2012, Article ID 186532, 4 pages
http://dx.doi.org/10.1155/2012/186532
Case Report

Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome

1Pediatric Oncohematology Center, Hospital Oswaldo Cruz, University of Pernambuco (CEONHPE/HUOC/UPE), 50050-210 Recife, PE, Brazil
2Institute of Biological Science, University of Pernambuco, 50050-210 Recife, PE, Brazil
3Departament of Genetics, Federal University of Pernambuco, 50670-901 Recife, PE, Brazil
4Institute of Human Genetics and Anthropology, 07740 Jena, Germany
5Department of Cytogenetics of the National Center for Bone Marrow Transplant (CEMO-INCA), National Cancer Institute, 20230-130 Rio de Janeiro, RJ, Brazil

Received 9 December 2011; Accepted 18 January 2012

Academic Editors: C. López Ginés, P. Saccucci, and G. Velagaleti

Copyright © 2012 Marina Araújo Fonzar Hernandes et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. C. A. Felix and B. J. Lange, “Leukemia in infants,” Oncologist, vol. 4, no. 3, pp. 225–240, 1999. View at Google Scholar · View at Scopus
  2. R. Pieters, M. Schrappe, P. De Lorenzo et al., “A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial,” The Lancet, vol. 370, no. 9583, pp. 240–250, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. S. P. Romana, M. Le Coniat, and R. Berger, “t(12;21): a new recurrent translocation in acute lymphoblastic leukemia,” Genes Chromosomes and Cancer, vol. 9, no. 3, pp. 186–191, 1994. View at Google Scholar · View at Scopus
  4. P. R. G. Zen, M. E. Z. Capra, L. M. R. Silla et al., “ETV6/RUNX1 fusion lacking prognostic effect in pediatric patients with acute lymphoblastic leukemia,” Cancer Genetics and Cytogenetics, vol. 188, no. 2, pp. 112–117, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. A. Peter, T. Heiden, T. Taube, G. Körner, and K. Seeger, “Interphase FISH on TEL/AML1 positive acute lymphoblastic leukemia relapses—analysis of clinical relevance of additional TEL and AML1 copy number changes,” European Journal of Haematology, vol. 83, no. 5, pp. 420–432, 2009. View at Publisher · View at Google Scholar
  6. A. Attarbaschi, G. Mann, M. König et al., “Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia: an interphase FISH analysis,” Leukemia, vol. 18, no. 10, pp. 1611–1616, 2004. View at Publisher · View at Google Scholar · View at Scopus
  7. L. G. Shaffer, M. L. Slovak, and L. J. Campbell, Eds., ISCN 2009: An International System for Human Cytogenetic Nomenclature, S. Karger AG, Basel, Switzerland, 2009.
  8. T. Liehr, H. Starke, A. Weise, H. Lehrer, and U. Claussen, “Multicolor FISH probe sets and their applications,” Histology and Histopathology, vol. 19, no. 1, pp. 229–237, 2004. View at Google Scholar · View at Scopus
  9. A. Weise, K. Mrasek, I. Fickelscher et al., “Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set,” Journal of Histochemistry and Cytochemistry, vol. 56, no. 5, pp. 487–493, 2008. View at Publisher · View at Google Scholar · View at Scopus
  10. H. Kempski, J. Chalker, J. Chessells et al., “An investigation of the t(12;21) rearrangement in children with B- precursor acute lymphoblastic leukaemia using cytogenetic and molecular methods,” British Journal of Haematology, vol. 105, no. 3, pp. 684–689, 1999. View at Publisher · View at Google Scholar · View at Scopus
  11. W. A. G. Stams, H. B. Beverloo, M. L. den Boer et al., “Incidence of additional genetic changes in the TEL and AML1 genes in DCOG and COALL-treated t(12;21)-positive pediatric ALL, and their relation with drug sensitivity and clinical outcome,” Leukemia, vol. 20, no. 3, pp. 410–416, 2006. View at Publisher · View at Google Scholar · View at Scopus
  12. C. D. Chow, L. Dalla-Pozza, D. J. Gottlieb, and M. S. Hertzberg, “Two cases of very late relapsing childhood ALL carrying the TEL:AML1 fusion gene,” Leukemia, vol. 13, no. 11, pp. 1893–1894, 1999. View at Google Scholar · View at Scopus
  13. R. M. Slater, E. V. Drunen, B. Roitzheim, S. Viehmann, H. B. Beverloo, and J. Harbott, “Variation in ETV6 and AML1 in t(12;21) childhood ALL revealed by interphase FISH,” Blood, vol. 90, pp. 222–223, 1997. View at Google Scholar
  14. M. Marineau, G. R. Jalali, K. E. Barber et al., “ETV6/RUNX1 fusion at diagnosis and relapse: some prognosis indications genes,” Chromosomes Cancer, vol. 43, pp. 54–71, 2005. View at Google Scholar
  15. I. F. Loncarevic, B. Roitzheim, J. Ritterbach et al., “Trisomy 21 is a recurrent secondary aberration in childhood acute lymphoblastic leukemia with TEL/AML1 gene fusion,” Genes Chromosomes and Cancer, vol. 24, no. 3, pp. 272–277, 1999. View at Publisher · View at Google Scholar
  16. M. L. Loh and J. E. Rubnitz, “TEL/AML1-positive pediatric leukemia: prognostic significance and therapeutic approaches,” Current Opinion in Hematology, vol. 9, no. 4, pp. 345–352, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. R. Stanchescu, D. R. Betts, G. Rechavi, N. Amariglio, and L. Trakhtenbrot, “Involvement of der(12)t(12;21)(p13;q22) and as well as additional rearrangements of chromosome 12 homolog in ETV6/RUNX1-positive acute lymphoblastic leukemia,” Cancer Genetics and Cytogenetics, vol. 190, no. 1, pp. 26–32, 2009. View at Publisher · View at Google Scholar · View at Scopus
  18. C. H. Pui, M. V. Relling, and J. R. Downing, “Mechanisms of disease: acute lymphoblastic leukemia,” The New England Journal of Medicine, vol. 350, no. 15, pp. 1535–1548, 2004. View at Publisher · View at Google Scholar · View at Scopus