title: Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.
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.
authors.affiliation: Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
authors.forename: N
authors.initials: N
authors.lastname: Martínez
authors.affiliation: Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Almaraz
authors.affiliation: Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
authors.forename: J P
authors.initials: JP
authors.lastname: Vaqué
authors.affiliation: IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Varela
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Derdak
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Beltran
authors.affiliation: Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Mollejo
authors.affiliation: Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos-Martin
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Agueda
authors.affiliation: Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Rinaldi
authors.affiliation: 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.
authors.forename: I
authors.initials: I
authors.lastname: Kwee
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Gut
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Blanc
authors.affiliation: Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
authors.forename: D
authors.initials: D
authors.lastname: Oscier
authors.affiliation: Department of Cancer Genomics, University of Southampton, Southampton, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: Strefford
authors.affiliation: Department of Haematology, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Martinez-Lopez
authors.affiliation: Department of Haematology, Hospital del Mar, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Salar
authors.affiliation: Department of Cytogenetics, Hospital del Mar and Institut Josep Carreras (IJC), Barcelona, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Sole
authors.affiliation: Dermatology Service, Hospital Universitario Doce de Octubre, Madrid, Spain.
authors.forename: J L
authors.initials: JL
authors.lastname: Rodriguez-Peralto
authors.affiliation: Department of Pathology, Hospital de León, León, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Diez-Tascón
authors.affiliation: Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain.
authors.forename: J F
authors.initials: JF
authors.lastname: García
authors.affiliation: Department of Pathology, Hospital Clínico Universitario de Santiago, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Fraga
authors.affiliation: Department of Haematology, Hospital Clínico de Salamanca, Salamanca, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Sebastián
authors.affiliation: Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Alvés
authors.affiliation: Department of Pathology, HGUGM, Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Menárguez
authors.affiliation: Department of Pathology, Hospital Xeral Cíes, Vigo, Spain.
authors.forename: J
authors.initials: J
authors.lastname: González-Carreró
authors.affiliation: Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
authors.forename: L F
authors.initials: LF
authors.lastname: Casado
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Bayes
authors.affiliation: 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.
authors.forename: F
authors.initials: F
authors.lastname: Bertoni
authors.affiliation: CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Gut
authors.affiliation: 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.
authors.forename: M A
authors.initials: MA
authors.lastname: Piris
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D002454:Cell Differentiation; D042002:Chromatin Assembly and Disassembly; D003599:Cytoskeleton; D059472:Exome / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D016328:NF-kappa B / Q000235:genetics; D015398:Signal Transduction; D013160:Splenic Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D016328:NF-kappa B