An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas
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AuthorManso Alonso, Rebeca; Rodríguez Pinilla, Socorro María; Lombardía Ferreira, Luis; Ruiz de Garibay, Gorka; López Colomer, María del Mar; Requena Caballero, Luis; Sánchez Verde, Lydia; Sánchez Beato, Margarita; Piris Pinilla, Miguel Ángel
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.