Splenic marginal-zone lymphoma: ontogeny and genetics

Abstract

Splenic marginal-zone lymphoma (SMZL) is a rare tumor that has recently emerged as a prototype for how the interplay between genetics and environment shapes the natural history of lymphomas. Indeed, the recent identification of molecular immunogenetic subgroups within SMZL may prove to be relevant not only for the sub-classification of the disease but also for improved understanding of the underlying biology. In contrast to other B-cell lymphomas, SMZL lacks a characteristic genetic lesion, although the majority of cases harbor genomic aberrations, as recently revealed by high-throughput studies that identified recurrent genetic aberrations, several in pathways related to marginal-zone differentiation and B-cell signaling. Here we provide an overview of recent research into the molecular and cellular biology of SMZL and related disorders, with special emphasis on immunogenetics and genomic aberrations, and discuss the value of molecular and cellular markers for the diagnosis and differential diagnosis of these entities.

Keywords::

• Lymphoma and Hodgkin disease
• cytogenetics
• molecular genetics

Acknowledgements

This work was supported in part by the ENosAI project (code 09SYN-13-880) co-funded by the EU and the Hellenic General Secretariat for Research and Technology (GSRT); and the KRIPIS action, funded by the GSRT and the European Regional Development Fund of the EU under the O.P. Competitiveness and Entrepreneurship. V.B. is supported by CEITEC MU (CZ.1.05/1.1.00/02.0068) and Sylica (FP7-REGPOT-2011-1).

K.S. receives research support from Roche SA and GlaxoSmithKline Hellas SA.

Potential conflict of interest:

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