Central nervous system ALK-negative anaplastic large cell lymphoma with IRF4/DUSP22 rearrangement

Brain Tumor Pathol. 2022 Jan;39(1):25-34. doi: 10.1007/s10014-021-00415-0. Epub 2021 Nov 18.

Abstract

Anaplastic large cell lymphomas (ALCL) are mature T-cell neoplasms, approximately half of which harbor rearrangements of the ALK gene that confer a good prognosis. Recent studies have demonstrated that a significant proportion of ALK-negative ALCLs demonstrate rearrangements of the IRF4/DUSP22 locus that also are typically associated with a favorable prognosis. ALCL with primary involvement of the central nervous system (CNS) is extremely rare. We report what may be the first case of ALK-negative ALCL with IRF4/DUSP22 rearrangement involving the brain in a 55-year-old man. Magnetic resonance imaging demonstrated signal abnormalities in the periventricular region, corpus callosum and cingulate gyrus. Biopsy revealed a diffuse parenchymal and angiocentric infiltrate of CD30-positive cells that showed IRF4/DUSP22 rearrangement by fluorescence in situ hybridization. We also review the clinical and pathologic features of primary CNS ALK-negative ALCLs in the literature and highlight the need for awareness of this entity to optimize appropriate management.

Keywords: ALK; Anaplastic large cell lymphoma; Central nervous system; IRF4/DUSP22.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System
  • Dual-Specificity Phosphatases
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma, Large-Cell, Anaplastic* / diagnosis
  • Lymphoma, Large-Cell, Anaplastic* / genetics
  • Male
  • Middle Aged
  • Mitogen-Activated Protein Kinase Phosphatases
  • Receptor Protein-Tyrosine Kinases / genetics

Substances

  • Receptor Protein-Tyrosine Kinases
  • Mitogen-Activated Protein Kinase Phosphatases
  • DUSP22 protein, human
  • Dual-Specificity Phosphatases