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

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

Author information

1
Pathology Department, Fundación Jiménez Díaz, Madrid, Spain.
2
Pathology Department, Fundación Jiménez Díaz, Madrid, Spain; Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain.
3
Clinical Research Programme, Molecular Diagnostics Clinical Research Unit, CNIO, Madrid, Spain.
4
Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Clinical Immunology Department, Hospital Clínico de San Carlos, Madrid, Spain.
5
Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Biotechnology Programme, Monoclonal Antibodies Unit, CNIO, Madrid, Spain.
6
Dermatology Department, Fundación Jimenez Díaz, Madrid, Spain.
7
Biotechnology Programme, Immunohistochemistry Unit, CNIO, Madrid, Spain.
8
Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Oncology-Haematology Area, Instituto Investigación Sanitaria, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain.
9
Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain; Pathology Department, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, IFIMAV, Santander, Spain.

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.

PMID:
24632576
PMCID:
PMC3954696
DOI:
10.1371/journal.pone.0091521
[Indexed for MEDLINE]
Free PMC Article

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