Intraparenchymal low-grade B-cell lymphomas of the central nervous system: Clinicopathologic and molecular analysis of three cases and a review of the literature

Ann Diagn Pathol. 2024 Dec:73:152376. doi: 10.1016/j.anndiagpath.2024.152376. Epub 2024 Sep 19.

Abstract

Primary central nervous system (CNS) lymphomas represent 1 % of all non-Hodgkin lymphomas, with diffuse large B-cell lymphomas as the prevailing subtype. Low-grade B-cell lymphomas are exceptional with only 24 marginal zone B-cell lymphomas (EMZL) and 1 follicular lymphoma (FL) previously reported so far. While their molecular profiles are studied elsewhere, data on primary intraparenchymal CNS cases remain limited. The objective of the present study is to contribute new cases of primary intraprenchymal low-grade B-cell lymphomas in the CNS and characterize their mutational profile. We conducted a comprehensive review of cases and a literature review to identify similar instances. Clinical, imaging, histological, immunohistochemical, and molecular characteristics were analyzed. Diagnoses were established according to established criteria. We present three novel cases of intraparenchymal CNS low-grade B-cell lymphomas. One case of intraparenchymal EMZL exhibited plasmacytic differentiation, while another lacked a plasma cell component. The third case was diagnosed as FL. The L265P mutation of MYD88 was absent in all cases. Next generation sequencing revealed pathogenic mutations in SPEN (Glu1970ValfsTer64) and ARID1A (Pro1355LeufsTer118) genes in one EMZL case. In conclusion, intraparenchymal CNS low-grade B-cell lymphomas are rare, with few reported cases. Our findings expand knowledge on their clinical and molecular features. We present the first molecular profile of primary CNS intraparenchymal EMZL, underscoring the need for further research to understand their biology and optimize treatment strategies.

Keywords: Central nervous system (CNS) lymphoma; Genome sequencing; Intraparenchymal; Low-grade B-cell lymphoma; Non-dural.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Central Nervous System Neoplasms* / genetics
  • Central Nervous System Neoplasms* / pathology
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Female
  • Humans
  • Lymphoma, B-Cell / diagnosis
  • Lymphoma, B-Cell / genetics
  • Lymphoma, B-Cell / pathology
  • Lymphoma, B-Cell, Marginal Zone / diagnosis
  • Lymphoma, B-Cell, Marginal Zone / genetics
  • Lymphoma, B-Cell, Marginal Zone / pathology
  • Lymphoma, Follicular / diagnosis
  • Lymphoma, Follicular / genetics
  • Lymphoma, Follicular / pathology
  • Lymphoma, Large B-Cell, Diffuse / diagnosis
  • Lymphoma, Large B-Cell, Diffuse / genetics
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Male
  • Middle Aged
  • Mutation
  • Myeloid Differentiation Factor 88 / genetics

Substances

  • Myeloid Differentiation Factor 88
  • DNA-Binding Proteins
  • Biomarkers, Tumor