@article{10902/5925,
year = {2014},
month = {3},
url = {http://hdl.handle.net/10902/5925},
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.},
publisher = {Public Library of Science},
publisher = {PLoS One. 2014 Mar 14;9(3):e91521},
title = {An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas},
author = {Manso Alonso, Rebeca and Rodríguez Pinilla, Socorro María and Lombardía Ferreira, Luis and Ruiz de Garibay, Gorka and López Colomer, María del Mar and Requena Caballero, Luis and Sánchez Verde, Lydia and Sánchez Beato, Margarita and Piris Pinilla, Miguel Ángel},
}