PloS one, 2014-03, Vol.9 (3), p.e91521
2014
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- Autor(en) / Beteiligte
- Titel
- An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas
- Ist Teil von
- PloS one, 2014-03, Vol.9 (3), p.e91521
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2014
- Quelle
- Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0091521Titel-ID: cdi_plos_journals_1507595496
- Format
- –
- Schlagworte
- Adult, Aged, Aged, 80 and over, Alleles, Amino Acid Substitution, Biological effects, Biology and Life Sciences, Cancer, CD4 antigen, CD8 antigen, Cytotoxicity, Female, Gene expression, Genetic aspects, Genotype, Humans, Immunohistochemistry, In Situ Hybridization, Lymphocytes, Lymphocytes T, Lymphoma, Lymphoma, Extranodal NK-T-Cell - genetics, Male, Medical prognosis, Medicine and Health Sciences, Middle Aged, Mutation, Non-Hodgkin's lymphomas, p53 Protein, Pathology, Perforin, Polymorphism, Single Nucleotide, Pore Forming Cytotoxic Proteins - genetics, Prognosis, Proteins, Single nucleotide polymorphisms, Single-nucleotide polymorphism, T-cell lymphoma, Tumor proteins, Tumors