This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
Leukemia Open Access 24 December 2022
-
Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma
Nature Communications Open Access 10 August 2021
-
Next-generation sequencing and FISH studies reveal the appearance of gene mutations and chromosomal abnormalities in hematopoietic progenitors in chronic lymphocytic leukemia
Journal of Hematology & Oncology Open Access 11 April 2017
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Rossi D, Rasi S, Fabbri G, Spina V, Fangazio M, Forconi F et al. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood 2012; 119: 521–529.
Fabbri G, Rasi S, Rossi D, Trifonov V, Khiabanian H, Ma J et al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med 2011; 208: 1389–1401.
Puente XS, Pinyol M, Quesada V, Conde L, Ordonez GR, Villamor N et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011; 475: 101–105.
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H et al WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues 4th ed. International Agency for Research on Cancer (IARC): Lyon, 2008.
Matutes E, Owusu-Ankomah K, Morilla R, Garcia MJ, Houlihan A, Que TH et al. The immunological profile of B-cell disorders and proposal of a scoring system for the diagnosis of CLL. Leukemia 1994; 8: 1640–1645.
Dohner H, Stilgenbauer S, Benner A, Leupolt E, Krober A, Bullinger L et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 2000; 343: 1910–1916.
Kohlmann A, Klein HU, Weissmann S, Bresolin S, Chaplin T, Cuppens H et al. The Interlaboratory RObustness of next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories. Leukemia 2011; 25: 1840–1848.
Grossmann V, Roller A, Klein HU, Weissmann S, Kern W, Haferlach C et al. Robustness of amplicon deep sequencing underlines its utility in clinical applications. J Mol Diagn 2013; 15: 473–484.
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248–249.
Kumar P, Henikoff S, Ng PC . Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073–1081.
Schwarz JM, Rodelsperger C, Schuelke M, Seelow D . MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575–576.
Oscier DG, Rose-Zerilli MJ, Winkelmann N, Gonzalez De Castro D, Gomez B, Forster J et al. The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial. Blood 2013; 121: 468–475.
Sportoletti P, Baldoni S, Cavalli L, Del PB, Bonifacio E, Ciurnelli R et al. NOTCH1 PEST domain mutation is an adverse prognostic factor in B-CLL. Br J Haematol 2010; 151: 404–406.
Villamor N, Conde L, Martinez-Trillos A, Cazorla M, Navarro A, Bea S et al. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome. Leukemia 2013; 27: 1100–1106.
Kohlmann A, Martinelli G, Hofmann WK, Kronnie GT, Chiaretti S, Preudhomme C et al. The Interlaboratory Robustness of Next-Generation Sequencing (IRON) Study Phase II: Deep-Sequencing Analyses of Hematological Malignancies Performed by an International Network Involving 26 Laboratories. ASH Annual Meeting Abstracts 2012; 1399.
Acknowledgements
Part of the sequencing of +12 cohorts was supported by Roche Applied Science (Penzberg, Germany). NOTCH1 mutation analyses were performed using oligonucleotide primer plates designed as part of the IRON-II collaborative network of hematological laboratories applying 454 amplicon next-generation deep-sequencing.15
Author contributions
SW, AK and SS designed the study. SW, SJ, MH, MA and VG performed research and generated data. SW, AR and AK analyzed and interpreted the data. JMH-R contributed clinical data. CH, WK, TH and SS performed diagnostic assessment and contributed to clinical data. SW wrote the paper.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
SW, AR, SJ, VG and AK are employed by the MLL Munich Leukemia Laboratory. WK, SS, CH and TH are part owners of the MLL Munich Leukemia Laboratory. MH, MA and JMH-R declare no conflict of interest.
Additional information
Supplementary Information accompanies this paper on the Leukemia website
Rights and permissions
About this article
Cite this article
Weissmann, S., Roller, A., Jeromin, S. et al. Prognostic impact and landscape of NOTCH1 mutations in chronic lymphocytic leukemia (CLL): a study on 852 patients. Leukemia 27, 2393–2396 (2013). https://doi.org/10.1038/leu.2013.218
Published:
Issue Date:
DOI: https://doi.org/10.1038/leu.2013.218
This article is cited by
-
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
Leukemia (2023)
-
Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma
Nature Communications (2021)
-
Chronic lymphocytic leukaemia: from genetics to treatment
Nature Reviews Clinical Oncology (2019)
-
Mutations in NOTCH1 PEST domain orchestrate CCL19-driven homing of chronic lymphocytic leukemia cells by modulating the tumor suppressor gene DUSP22
Leukemia (2017)
-
Next-generation sequencing and FISH studies reveal the appearance of gene mutations and chromosomal abnormalities in hematopoietic progenitors in chronic lymphocytic leukemia
Journal of Hematology & Oncology (2017)