Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-12-03

AUTHORS

N Martínez, C Almaraz, J P Vaqué, I Varela, S Derdak, S Beltran, M Mollejo, Y Campos-Martin, L Agueda, A Rinaldi, I Kwee, M Gut, J Blanc, D Oscier, J C Strefford, J Martinez-Lopez, A Salar, F Sole, J L Rodriguez-Peralto, C Diez-Tascón, J F García, M Fraga, E Sebastián, J Alvés, J Menárguez, J González-Carreró, L F Casado, M Bayes, F Bertoni, I Gut, M A Piris

ABSTRACT

Splenic marginal zone lymphoma (SMZL) is a B-cell neoplasm whose molecular pathogenesis remains fundamentally unexplained, requiring more precise diagnostic markers. Previous molecular studies have revealed 7q loss and mutations of nuclear factor κB (NF-κB), B-cell receptor (BCR) and Notch signalling genes. We performed whole-exome sequencing in a series of SMZL cases. Results confirmed that SMZL is an entity distinct from other low-grade B-cell lymphomas, and identified mutations in multiple genes involved in marginal zone development, and others involved in NF-κB, BCR, chromatin remodelling and the cytoskeleton. More... »

PAGES

1334-1340

Journal

TITLE

Leukemia

ISSUE

6

VOLUME

28

Author Affiliations

  • Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain
  • IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain
  • CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain
  • Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain
  • Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland
  • SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland
  • Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK
  • Department of Cancer Genomics, University of Southampton, Southampton, UK
  • Department of Haematology, Hospital Universitario Doce de Octubre, Madrid, Spain
  • Department of Haematology, Hospital del Mar, Barcelona, Spain
  • Department of Cytogenetics, Hospital del Mar and Institut Josep Carreras (IJC), Barcelona, Spain
  • Dermatology Service, Hospital Universitario Doce de Octubre, Madrid, Spain
  • Department of Pathology, Hospital de León, León, Spain
  • Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain
  • Department of Pathology, Hospital Clínico Universitario de Santiago, Spain
  • Department of Haematology, Hospital Clínico de Salamanca, Salamanca, Spain
  • Department of Pathology, Hospital Universitario La Paz, Madrid, Spain
  • Department of Pathology, HGUGM, Madrid, Spain
  • Department of Pathology, Hospital Xeral Cíes, Vigo, Spain
  • Lymphoma Unit, IOSI Oncology Institute of Southern Switzerland, Bellinzona, Switzerland
  • Department of Pathology, Hospital Universitario Marqués de Valdecilla, Santander, Spain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/leu.2013.365

    DOI

    http://dx.doi.org/10.1038/leu.2013.365

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1017089586

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24296945


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