Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2016, Article ID 4247908, 5 pages
http://dx.doi.org/10.1155/2016/4247908
Research Article

A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia

1Departments of Hematology and Clinical Pathology, and Research Institute, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil
2Department of Hematology, Universidade Estadual de Campinas (Hemocentro-Unicamp), Campinas, SP, Brazil
3Department of Clinical Pathology, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil
4Hematology Service, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo São Paulo, SP, Brazil
5Cytogenetics Laboratories, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil
6Hemocentro, Faculdade de Medicina da Universidade Estadual de Campinas (Hemocentro-Unicamp), Campinas, SP, Brazil
7Bone Marrow Transplantation Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
8Paediatric Haematology-Oncology Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
9Department of Hematology, Faculdade de Medicina da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brazil
10Department of Hematology, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil

Received 9 June 2016; Revised 5 October 2016; Accepted 18 October 2016

Academic Editor: Carlo Visco

Copyright © 2016 Paulo Vidal Campregher 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. S. Stilgenbauer and T. Zenz, “Understanding and managing ultra high-risk chronic lymphocytic leukemia,” Hematology / the Education Program of the American Society of Hematology, vol. 2010, pp. 481–488, 2010. View at Google Scholar
  2. P. V. Campregher and N. Hamerschlak, “Novel prognostic gene mutations identified in chronic lymphocytic leukemia and their impact on clinical practice,” Clinical Lymphoma, Myeloma and Leukemia, vol. 14, no. 4, pp. 271–276, 2014. View at Publisher · View at Google Scholar · View at Scopus
  3. G. Fabbri, S. Rasi, D. Rossi et al., “Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation,” The Journal of Experimental Medicine, vol. 208, no. 7, pp. 1389–1401, 2011. View at Publisher · View at Google Scholar · View at Scopus
  4. D. Rossi, S. Rasi, G. Fabbri et al., “Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia,” Blood, vol. 119, no. 2, pp. 521–529, 2012. View at Publisher · View at Google Scholar · View at Scopus
  5. X. S. Puente, M. Pinyol, V. Quesada et al., “Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia,” Nature, vol. 475, no. 7354, pp. 101–105, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. I. Del Giudice, D. Rossi, S. Chiaretti et al., “NOTCH1 mutations in +12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of +12 CLL,” Haematologica, vol. 97, no. 3, pp. 437–441, 2012. View at Publisher · View at Google Scholar · View at Scopus
  7. J. J. M. van Dongen, A. W. Langerak, M. Brüggemann et al., “Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 concerted action BMH4-CT98-3936,” Leukemia, vol. 17, no. 12, pp. 2257–2317, 2003. View at Publisher · View at Google Scholar · View at Scopus
  8. T. J. Hamblin, Z. Davis, A. Gardiner, D. G. Oscier, and F. K. Stevenson, “Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia,” Blood, vol. 94, no. 6, pp. 1848–1854, 1999. View at Google Scholar · View at Scopus
  9. V. Balatti, A. Bottoni, A. Palamarchuk et al., “NOTCH1 mutations in CLL associated with trisomy 12,” Blood, vol. 119, no. 2, pp. 329–331, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. G. Fabbri, S. Rasi, D. Rossi et al., “Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation,” Journal of Experimental Medicine, vol. 208, no. 7, pp. 1389–1401, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. C. Nabhan, G. Raca, and Y. L. Wang, “Predicting prognosis in chronic lymphocytic leukemia in the contemporary era,” JAMA Oncology, vol. 1, no. 7, pp. 965–574, 2015. View at Publisher · View at Google Scholar
  12. F. Arruga, B. Gizdic, S. Serra et al., “Functional impact of NOTCH1 mutations in chronic lymphocytic leukemia,” Leukemia, vol. 28, no. 5, pp. 1060–1070, 2014. View at Publisher · View at Google Scholar · View at Scopus
  13. E. Falisi, E. Novella, C. Visco et al., “B-cell receptor configuration and mutational analysis of patients with chronic lymphocytic leukaemia and trisomy 12 reveal recurrent molecular abnormalities,” Hematological Oncology, vol. 32, no. 1, pp. 22–30, 2014. View at Publisher · View at Google Scholar · View at Scopus
  14. C. Groth and M. E. Fortini, “Therapeutic approaches to modulating Notch signaling: current challenges and future prospects,” Seminars in Cell and Developmental Biology, vol. 23, no. 4, pp. 465–472, 2012. View at Publisher · View at Google Scholar · View at Scopus
  15. S. Stilgenbauer, A. Schnaiter, P. Paschka et al., “Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial,” Blood, vol. 123, no. 21, pp. 3247–3254, 2014. View at Publisher · View at Google Scholar · View at Scopus
  16. S. Weissmann, A. Roller, S. Jeromin et al., “Prognostic impact and landscape of NOTCH1 mutations in chronic lymphocytic leukemia (CLL): a study on 852 patients,” Leukemia, vol. 27, no. 12, pp. 2393–2396, 2013. View at Publisher · View at Google Scholar · View at Scopus