An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas

PLoS One. 2014 Mar 14;9(3):e91521. doi: 10.1371/journal.pone.0091521. eCollection 2014.

Abstract

NK/T-cell lymphoma (NKTCL) is the most frequent EBV-related NK/T-cell disease. Its clinical manifestations overlap with those of familial haemophagocytic lymphohistiocytosis (FHLH). Since PERFORIN (PRF1) mutations are present in FHLH, we analysed its role in a series of 12 nasal and 12 extranasal-NKTCLs. 12.5% of the tumours and 25% of the nasal-origin cases had the well-known g.272C>T(p.Ala91Val) pathogenic SNP, which confers a poor prognosis. Two of these cases had a double-CD4/CD8-positive immunophenotype, although no correlation was found with perforin protein expression. p53 was overexpressed in 20% of the tumoral samples, 80% of which were of extranasal origin, while none showed PRF1 SNVs. These results suggest that nasal and extranasal NKTCLs have different biological backgrounds, although this requires validation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Amino Acid Substitution
  • Female
  • Genotype
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Lymphoma, Extranodal NK-T-Cell / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Perforin
  • Polymorphism, Single Nucleotide*
  • Pore Forming Cytotoxic Proteins / genetics*

Substances

  • PRF1 protein, human
  • Pore Forming Cytotoxic Proteins
  • Perforin

Grants and funding

This study was supported by grants from the Ministerio de Ciencia e Innovación, Spain (RETICC, SAF2008-03871, FIS 08/0856) and the Spanish Association Against Cancer (AECC). MSB is supported by a Miguel Servet Contract (CP11/00018) from the Fondo de Investigaciones Sanitarias. RM is supported by the Conchita Rábago Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.