Anaplastic large cell lymphoma arises in thymocytes and requires transient TCR expression for thymic egress

Nat Commun. 2016 Jan 12:7:10087. doi: 10.1038/ncomms10087.

Abstract

Anaplastic large cell lymphoma (ALCL) is a peripheral T-cell lymphoma presenting mostly in children and young adults. The natural progression of this disease is largely unknown as is the identity of its true cell of origin. Here we present a model of peripheral ALCL pathogenesis where the malignancy is initiated in early thymocytes, before T-cell receptor (TCR) β-rearrangement, which is bypassed in CD4/NPM-ALK transgenic mice following Notch1 expression. However, we find that a TCR is required for thymic egress and development of peripheral murine tumours, yet this TCR must be downregulated for T-cell lymphomagenesis. In keeping with this, clonal TCR rearrangements in human ALCL are predominantly in-frame, but often aberrant, with clonal TCRα but no comparable clonal TCRβ rearrangement, yielding events that would not normally be permissive for survival during thymic development. Children affected by ALCL may thus harbour thymic lymphoma-initiating cells capable of seeding relapse after chemotherapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • CD4 Antigens / metabolism
  • Cell Line, Tumor
  • Child
  • Disease Models, Animal
  • Female
  • Flow Cytometry
  • Gene Rearrangement, T-Lymphocyte
  • Genes, RAG-1 / genetics
  • Genes, T-Cell Receptor alpha*
  • Genes, T-Cell Receptor beta*
  • Humans
  • Immunohistochemistry
  • Jurkat Cells
  • Lymphoma, Large-Cell, Anaplastic / metabolism*
  • Male
  • Mice
  • Mice, Transgenic
  • Protein-Tyrosine Kinases / metabolism
  • Receptor, Notch1 / metabolism
  • Receptors, Antigen, T-Cell / metabolism
  • Receptors, Antigen, T-Cell, alpha-beta / genetics
  • Receptors, Antigen, T-Cell, alpha-beta / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Thymocytes / metabolism*
  • Thymus Gland / cytology*

Substances

  • CD4 Antigens
  • Notch1 protein, mouse
  • Receptor, Notch1
  • Receptors, Antigen, T-Cell
  • Receptors, Antigen, T-Cell, alpha-beta
  • p80(NPM-ALK) protein
  • Protein-Tyrosine Kinases