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Leukemia. 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.

Author information

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.

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.

PMID:
24296945
DOI:
10.1038/leu.2013.365
[Indexed for MEDLINE]

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