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

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-NK...

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Autores principales:	Rebeca Manso, Socorro María Rodríguez-Pinilla, Luis Lombardia, Gorka Ruiz de Garibay, Maria Del Mar López, Luis Requena, Lydia Sánchez, Margarita Sánchez-Beato, Miguel Ángel Piris
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a0db50eae82f451499656f139381e29d
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spelling	oai:doaj.org-article:a0db50eae82f451499656f139381e29d2021-11-18T08:28:09ZAn A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.1932-620310.1371/journal.pone.0091521https://doaj.org/article/a0db50eae82f451499656f139381e29d2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24632576/?tool=EBIhttps://doaj.org/toc/1932-6203NK/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.Rebeca MansoSocorro María Rodríguez-PinillaLuis LombardiaGorka Ruiz de GaribayMaria Del Mar LópezLuis RequenaLydia SánchezMargarita Sánchez-BeatoMiguel Ángel PirisPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 3, p e91521 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rebeca Manso Socorro María Rodríguez-Pinilla Luis Lombardia Gorka Ruiz de Garibay Maria Del Mar López Luis Requena Lydia Sánchez Margarita Sánchez-Beato Miguel Ángel Piris An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
description	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.
format	article
author	Rebeca Manso Socorro María Rodríguez-Pinilla Luis Lombardia Gorka Ruiz de Garibay Maria Del Mar López Luis Requena Lydia Sánchez Margarita Sánchez-Beato Miguel Ángel Piris
author_facet	Rebeca Manso Socorro María Rodríguez-Pinilla Luis Lombardia Gorka Ruiz de Garibay Maria Del Mar López Luis Requena Lydia Sánchez Margarita Sánchez-Beato Miguel Ángel Piris
author_sort	Rebeca Manso
title	An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
title_short	An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
title_full	An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
title_fullStr	An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
title_full_unstemmed	An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
title_sort	a91v snp in the perforin gene is frequently found in nk/t-cell lymphomas.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/a0db50eae82f451499656f139381e29d
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An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.

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