title: An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
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.
authors.affiliation: Pathology Department, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: Rebeca
authors.initials: R
authors.lastname: Manso
authors.affiliation: Pathology Department, Fundación Jiménez Díaz, Madrid, Spain; Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain.
authors.forename: Socorro María
authors.initials: SM
authors.lastname: Rodríguez-Pinilla
authors.affiliation: Clinical Research Programme, Molecular Diagnostics Clinical Research Unit, CNIO, Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Lombardia
authors.affiliation: Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Clinical Immunology Department, Hospital Clínico de San Carlos, Madrid, Spain.
authors.forename: Gorka
authors.initials: G
authors.lastname: Ruiz de Garibay
authors.affiliation: Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Biotechnology Programme, Monoclonal Antibodies Unit, CNIO, Madrid, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Del Mar López
authors.affiliation: Dermatology Department, Fundación Jimenez Díaz, Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Requena
authors.affiliation: Biotechnology Programme, Immunohistochemistry Unit, CNIO, Madrid, Spain.
authors.forename: Lydia
authors.initials: L
authors.lastname: Sánchez
authors.affiliation: Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Oncology-Haematology Area, Instituto Investigación Sanitaria, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain.
authors.forename: Margarita
authors.initials: M
authors.lastname: Sánchez-Beato
authors.affiliation: Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Pathology Department, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, IFIMAV, Santander, Spain.
authors.forename: Miguel Ángel
authors.initials: MÁ
authors.lastname: Piris
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D005260:Female; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D054391:Lymphoma, Extranodal NK-T-Cell / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D054353:Perforin; D020641:Polymorphism, Single Nucleotide; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin