. 2014 Jun;28(6):1334-40.

doi: 10.1038/leu.2013.365. Epub 2013 Dec 3.

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

N Martínez¹, C Almaraz¹, J P Vaqué¹, I Varela², S Derdak³, S Beltran³, M Mollejo⁴, Y Campos-Martin⁴, L Agueda³, A Rinaldi⁵, I Kwee⁶, M Gut³, J Blanc³, D Oscier⁷, J C Strefford⁸, J Martinez-Lopez⁹, A Salar¹⁰, F Sole¹¹, J L Rodriguez-Peralto¹², C Diez-Tascón¹³, J F García¹⁴, M Fraga¹⁵, E Sebastián¹⁶, J Alvés¹⁷, J Menárguez¹⁸, J González-Carreró¹⁹, L F Casado⁴, M Bayes³, F Bertoni²⁰, I Gut³, M A Piris²¹

Affiliations

¹ Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
² IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain.
³ CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
⁴ Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
⁵ Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
⁶ 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.
⁷ Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
⁸ Department of Cancer Genomics, University of Southampton, Southampton, UK.
⁹ Department of Haematology, Hospital Universitario Doce de Octubre, Madrid, Spain.
¹⁰ Department of Haematology, Hospital del Mar, Barcelona, Spain.
¹¹ Department of Cytogenetics, Hospital del Mar and Institut Josep Carreras (IJC), Barcelona, Spain.
¹² Dermatology Service, Hospital Universitario Doce de Octubre, Madrid, Spain.
¹³ Department of Pathology, Hospital de León, León, Spain.
¹⁴ Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain.
¹⁵ Department of Pathology, Hospital Clínico Universitario de Santiago, Spain.
¹⁶ Department of Haematology, Hospital Clínico de Salamanca, Salamanca, Spain.
¹⁷ Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
¹⁸ Department of Pathology, HGUGM, Madrid, Spain.
¹⁹ Department of Pathology, Hospital Xeral Cíes, Vigo, Spain.
²⁰ 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.
²¹ 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.

PMID: 24296945
DOI: 10.1038/leu.2013.365

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

N Martínez et al. Leukemia. 2014 Jun.

. 2014 Jun;28(6):1334-40.

doi: 10.1038/leu.2013.365. Epub 2013 Dec 3.

Authors

Affiliations

¹ Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
² IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain.
³ CNAG Centro Nacional de Análisis Genómico, Barcelona, Spain.
⁴ Department of Pathology, Hospital Virgen de la Salud, Toledo, Spain.
⁵ Lymphoma and Genomics Research Program, IOR Institute of Oncology Research and Oncology Institute of Southern Switzerland, Bellinzona, Switzerland.
⁶ 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.
⁷ Department of Haematology, Royal Bournemouth Hospital, Bournemouth, UK.
⁸ Department of Cancer Genomics, University of Southampton, Southampton, UK.
⁹ Department of Haematology, Hospital Universitario Doce de Octubre, Madrid, Spain.
¹⁰ Department of Haematology, Hospital del Mar, Barcelona, Spain.
¹¹ Department of Cytogenetics, Hospital del Mar and Institut Josep Carreras (IJC), Barcelona, Spain.
¹² Dermatology Service, Hospital Universitario Doce de Octubre, Madrid, Spain.
¹³ Department of Pathology, Hospital de León, León, Spain.
¹⁴ Department of Pathology, MD Anderson Cancer Center Madrid, Madrid, Spain.
¹⁵ Department of Pathology, Hospital Clínico Universitario de Santiago, Spain.
¹⁶ Department of Haematology, Hospital Clínico de Salamanca, Salamanca, Spain.
¹⁷ Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
¹⁸ Department of Pathology, HGUGM, Madrid, Spain.
¹⁹ Department of Pathology, Hospital Xeral Cíes, Vigo, Spain.
²⁰ 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.
²¹ 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.

PMID: 24296945
DOI: 10.1038/leu.2013.365

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.

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

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

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