Mantle cell lymphoma: recent insights into pathogenesis, clinical variability, and new diagnostic markers

Birgitta Sander1

  • 1Division of Pathology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden. birgitta.sander@ki.se

Insights

Mantle cell lymphoma (MCL) is a B-cell lymphoma subtype characterized by the t(11;14) translocation and cyclin D1 expression. This review covers MCL pathogenesis, diagnosis, and variants like indolent and cyclin D1-negative MCL.

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Mantle cell lymphoma (MCL) is a distinct B-cell lymphoma subtype, comprising 3%-10% of lymphoma diagnoses.
  • Its name derives from the growth pattern mimicking the mantle zone surrounding B-cell follicles.
  • The characteristic genetic hallmark is the t(11;14) translocation, leading to aberrant CCND1 gene expression and cyclin D1 production.

Purpose of the Study:

  • To review current insights into the pathogenesis of MCL based on expression and genomic profiling.
  • To discuss diagnostic challenges and differential diagnosis pitfalls with other B-cell malignancies.
  • To highlight the utility of novel diagnostic markers such as SOX11 and CD200.

Main Methods:

  • Review of existing literature on MCL pathogenesis, diagnosis, and clinical features.
  • Analysis of gene expression and genomic profiling data.
  • Discussion of differential diagnostic criteria and marker utility.

Main Results:

  • Expression and genomic profiling offer new insights into MCL pathogenesis.
  • Differential diagnosis from B-cell chronic lymphocytic leukemia, B-cell prolymphocytic leukemia, cyclin D1-positive diffuse large B-cell lymphoma, hairy cell leukemia, and plasma cell tumors presents challenges.
  • SOX11 and CD200 are valuable new diagnostic markers.

Conclusions:

  • Understanding MCL pathogenesis is evolving through molecular profiling.
  • Accurate differential diagnosis is crucial and aided by new markers.
  • Variants such as in situ MCL, indolent MCL, and cyclin D1-negative MCL require specific consideration.