PRDM1/BLIMP1 is commonly inactivated in anaplastic large T-cell lymphoma

Blood. 2013 Oct 10;122(15):2683-93. doi: 10.1182/blood-2013-04-497933. Epub 2013 Sep 4.

Abstract

Anaplastic large cell lymphoma (ALCL) is a mature T-cell lymphoma that can present as a systemic or primary cutaneous disease. Systemic ALCL represents 2% to 5% of adult lymphoma but up to 30% of all pediatric cases. Two subtypes of systemic ALCL are currently recognized on the basis of the presence of a translocation involving the anaplastic lymphoma kinase ALK gene. Despite considerable progress, several questions remain open regarding the pathogenesis of both ALCL subtypes. To investigate the molecular pathogenesis and to assess the relationship between the ALK(+) and ALK(-) ALCL subtypes, we performed a genome-wide DNA profiling using high-density, single nucleotide polymorphism arrays on a series of 64 cases and 7 cell lines. The commonest lesions were losses at 17p13 and at 6q21, encompassing the TP53 and PRDM1 genes, respectively. The latter gene, coding for BLIMP1, was inactivated by multiple mechanisms, more frequently, but not exclusively, in ALK(-)ALCL. In vitro and in vivo experiments showed that that PRDM1 is a tumor suppressor gene in ALCL models, likely acting as an antiapoptotic agent. Losses of TP53 and/or PRDM1 were present in 52% of ALK(-)ALCL, and in 29% of all ALCL cases with a clinical implication.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Anaplastic Lymphoma Kinase
  • Animals
  • Cell Line, Tumor
  • Female
  • Gene Expression Regulation, Neoplastic / genetics*
  • Humans
  • Lymphoma, Large-Cell, Anaplastic / genetics*
  • Lymphoma, T-Cell / genetics*
  • Male
  • Mice
  • Mice, Inbred NOD
  • Middle Aged
  • Neoplasm Transplantation
  • Positive Regulatory Domain I-Binding Factor 1
  • Receptor Protein-Tyrosine Kinases / genetics
  • Repressor Proteins / genetics*
  • Tumor Suppressor Protein p53 / genetics
  • Young Adult

Substances

  • Repressor Proteins
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • PRDM1 protein, human
  • Positive Regulatory Domain I-Binding Factor 1
  • ALK protein, human
  • Alk protein, mouse
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases