Primary mediastinal large B cell lymphoma with coexisting aberrations of C-MYC and BCL-2: a case report and literature review

Med Mol Morphol. 2020 Jun;53(2):124-129. doi: 10.1007/s00795-019-00237-2. Epub 2019 Nov 14.

Abstract

Primary mediastinal large B-cell lymphoma (PMLBCL) is an aggressive lymphoma characteristic with distinct clinical, morphologic, and immunophenotypic features. The rearrangements of C-MYC, BCL2 and/or BCL6 which are common in diffuse large B-cell lymphoma (DLBCL) are typically absent in PLMBCL. Here we proved a novel case of PMLBCL with concurrent rearrangements of C-MYC and BCL2. Histology showed typical pathomorphological features of PLMBCL. Fluorescent in situ hybridization (FISH) studies showed rearrangements of C-MYC and copy number variation (CNV) of BCL2 gene. It is not well known on the clinical significance of rearrangements of C-MYC and BCL2 genes in PMLBCL. The case gives evidence that cytogenetic testing is necessary for PMLBCLs to get precise clinical evaluation and appropriate treatment.

Keywords: BCL2; C-MYC; Copy number variation; Gene rearrangement; Primary mediastinal large B-cell lymphoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Biopsy, Large-Core Needle
  • Combined Modality Therapy / methods
  • DNA Copy Number Variations
  • Gene Rearrangement
  • Humans
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / secondary
  • Lung Neoplasms / therapy
  • Lymphoma, Large B-Cell, Diffuse / diagnosis
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Lymphoma, Large B-Cell, Diffuse / therapy
  • Male
  • Mediastinal Neoplasms / diagnosis
  • Mediastinal Neoplasms / genetics*
  • Mediastinal Neoplasms / pathology
  • Mediastinal Neoplasms / therapy
  • Mediastinum / diagnostic imaging
  • Mediastinum / pathology
  • Positron Emission Tomography Computed Tomography
  • Proto-Oncogene Proteins c-bcl-2
  • Proto-Oncogene Proteins c-myc
  • Stem Cell Transplantation*
  • Transplantation, Autologous
  • Treatment Outcome
  • Young Adult

Substances

  • BCL2 protein, human
  • MYC protein, human
  • Proto-Oncogene Proteins c-bcl-2
  • Proto-Oncogene Proteins c-myc