Title |
An A91V SNP in the Perforin Gene Is Frequently Found in NK/T-Cell Lymphomas
|
---|---|
Published in |
PLOS ONE, March 2014
|
DOI | 10.1371/journal.pone.0091521 |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 38% |
Turkey | 1 | 13% |
Mexico | 1 | 13% |
Unknown | 3 | 38% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 7 | 88% |
Scientists | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 16 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 4 | 25% |
Researcher | 3 | 19% |
Student > Master | 2 | 13% |
Student > Bachelor | 1 | 6% |
Lecturer | 1 | 6% |
Other | 2 | 13% |
Unknown | 3 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 25% |
Agricultural and Biological Sciences | 3 | 19% |
Immunology and Microbiology | 2 | 13% |
Biochemistry, Genetics and Molecular Biology | 2 | 13% |
Physics and Astronomy | 1 | 6% |
Other | 1 | 6% |
Unknown | 3 | 19% |