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Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.
Journal article

Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.

  • Martínez N Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
  • Almaraz C Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
  • Vaqué JP Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
  • Varela I IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain.
  • Derdak S CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Beltran S CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Mollejo M Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
  • Campos-Martin Y Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
  • Agueda L CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Rinaldi A Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
  • Kwee I 1] Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland [2] Dalle Molle Institute for Artificial Intelligence (IDSIA), Manno, Switzerland [3] SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.
  • Gut M CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Blanc J CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Oscier D Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
  • Strefford JC Department of Cancer Genomics, University of Southampton, Southampton, UK.
  • Martinez-Lopez J Department of Haematology, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Salar A Department of Haematology, Hospital del Mar, Barcelona, Spain.
  • Sole F Department of Cytogenetics, Hospital del Mar and Institut Josep Carreras (IJC), Barcelona, Spain.
  • Rodriguez-Peralto JL Dermatology Service, Hospital Universitario Doce de Octubre, Madrid, Spain.
  • Diez-Tascón C Department of Pathology, Hospital de León, León, Spain.
  • García JF Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain.
  • Fraga M Department of Pathology, Hospital Clínico Universitario de Santiago, Spain.
  • Sebastián E Department of Haematology, Hospital Clínico de Salamanca, Salamanca, Spain.
  • Alvés J Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
  • Menárguez J Department of Pathology, HGUGM, Madrid, Spain.
  • González-Carreró J Department of Pathology, Hospital Xeral Cíes, Vigo, Spain.
  • Casado LF Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
  • Bayes M CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Bertoni F 1] Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland [2] Lymphoma Unit, IOSI Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
  • Gut I CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
  • Piris MA 1] Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain [2] Department of Pathology, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
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  • 2013-12-04
Published in:
  • Leukemia. - 2014
Biomarkers, Tumor
Cell Differentiation
Chromatin Assembly and Disassembly
Cytoskeleton
Exome
High-Throughput Nucleotide Sequencing
Humans
Lymphoma, B-Cell, Marginal Zone
Mutation
NF-kappa B
Signal Transduction
Splenic Neoplasms
English 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.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/278910
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