Whole-exome Sequencing in Splenic Marginal Zone Lymphoma Reveals Mutations in Genes Involved in Marginal Zone Differentiation

Overview

Journal Leukemia

Specialties Hematology
Oncology

Date 2013 Dec 4

PMID 24296945

Citations 46

Authors

N Martinez

C Almaraz

J P Vaque

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-Tascon

J F Garcia

M Fraga

E Sebastian

J Alves

J Menarguez

J Gonzalez-Carrero

L F Casado

M Bayes

F Bertoni

I Gut

M A Piris

Affiliations

Soon will be listed here.

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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