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Molecular Genetics of Mantle Cell Lymphoma

  1. Alba Navarro,
  2. Sílvia Beà

Published Online: 16 JUN 2014

DOI: 10.1002/9780470015902.a0025234



How to Cite

Navarro, A. and Beà, S. 2014. Molecular Genetics of Mantle Cell Lymphoma. eLS. .

Author Information

  1. Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain

Publication History

  1. Published Online: 16 JUN 2014


Mantle cell lymphoma (MCL) is an aggressive neoplasm considered incurable with current therapies. Both the Cyclin D1 translocation and the profile of genomic alterations are well known but the landscape of somatic mutations has only been recently characterised. Overall, numerical and structural alterations, amplifications, homozygous deletions, and somatic mutations affect components of the cell cycle regulation, deoxyribonucleic acid (DNA) damage response, cell survival pathways, NOTCH and NFκB pathways, and the chromatin modification machinery. These alterations are potentially involved in the pathogenesis, progression and poor response to treatment of these lymphomas. In this review, the pathogenetic mechanisms of MCL, and how their better knowledge may help in offering new perspectives for the treatment of patients providing potential targets for individualised therapeutic intervention is discussed.

Key Concepts:

  • MCL is an aggressive B-cell lymphoma.

  • A subset of patients follows an indolent clinical course.

  • Translocations of CCND1 (or CCND2) are the primary genetic alterations.

  • MCL have a very specific profile of secondary chromosomal gains and losses.

  • Several crucial genes are targeted by homozygous deletions and amplifications.

  • MCL SOX11-positive with unmutated-IGHV show high genomic complexity and worse prognostic compared to SOX11-negative with mutated-IGHV.

  • The different molecular and clinical subtypes of MCL have a different mutation distribution pattern.

  • The main pathways affected by molecular alterations in MCL are cell cycle regulation, DNA damage response, cell survival pathways, NOTCH and NFκB pathways, and chromatin modification machinery.

  • Identifying molecular mechanisms that contribute to MCL pathogenesis and progression may offer potential targets for the management of the patients.


  • Mantle cell lymphoma;
  • hallmark translocation;
  • copy number alteration;
  • homozygous deletion;
  • CNN-LOH;
  • target gene;
  • pathway;
  • mutation;
  • targeted treatment;
  • prognosis