Transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma to interdigitating dendritic cell sarcoma: evidence for transdifferentiation of the lymphoma clone

Am J Clin Pathol. 2009 Dec;132(6):928-39. doi: 10.1309/AJCPWQ0I0DGXBMHO.

Abstract

Interdigitating dendritic cell sarcoma (IDCS) is a rare tumor derived from interdigitating dendritic cells. Three cases of IDCS associated with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) have been described, but no clonal relationship between the 2 neoplasms was demonstrated. We present a detailed case analysis of a CLL/SLL with metachronous IDCS and demonstrate that these 2 neoplasms are clonally related. The IDCS and CLL cells had trisomy 12 and identical monoclonal immunoglobulin heavy chain gene rearrangements. Analysis of transcription factors with a role in myeloid differentiation demonstrated PU.1 up-regulation and C/EBPalpha down-regulation in IDCS compared with CLL. High-density array comparative genomic hybridization also identified gains in part of chromosome 16q in IDCS. Our study demonstrates for the first time clonal transformation of CLL/SLL into IDCS. This phenomenon may be triggered by alterations in lineage-determining transcription programs, which result in transdifferentiation, coupled with additional oncogenic stimuli caused by chromosomal imbalances.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Bone Marrow Cells / chemistry
  • Bone Marrow Cells / pathology
  • Cell Transdifferentiation
  • Cell Transformation, Neoplastic / genetics
  • Cell Transformation, Neoplastic / pathology*
  • Chromosomes, Human, Pair 12
  • Clone Cells
  • Dendritic Cell Sarcoma, Interdigitating / genetics
  • Dendritic Cell Sarcoma, Interdigitating / pathology*
  • Gene Rearrangement, B-Lymphocyte, Heavy Chain / genetics
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / pathology*
  • Lymph Nodes / chemistry
  • Lymph Nodes / pathology
  • Male
  • Neoplasms, Multiple Primary*
  • RNA, Neoplasm / analysis
  • Trisomy

Substances

  • RNA, Neoplasm