Manso Rebeca, Rodríguez-Pinilla Socorro María, Lombardia Luis, Ruiz de Garibay Gorka, Del Mar López Maria, Requena Luis, Sánchez Lydia, Sánchez-Beato Margarita, Piris Miguel Ángel
Pathology Department, Fundación Jiménez Díaz, Madrid, Spain.
Pathology Department, Fundación Jiménez Díaz, Madrid, Spain; Molecular Pathology Programme, Lymphoma Group, CNIO, Madrid, Spain.
PLoS One. 2014 Mar 14;9(3):e91521. doi: 10.1371/journal.pone.0091521. eCollection 2014.
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.
NK/T细胞淋巴瘤（NKTCL）是最常见的与EB病毒相关的NK/T细胞疾病。其临床表现与家族性噬血细胞性淋巴组织细胞增生症（FHLH）重叠。由于FHLH中存在穿孔素（PRF1）突变，我们分析了其在12例鼻型和12例鼻外型NKTCL中的作用。12.5%的肿瘤和25%的鼻源性病例存在众所周知的g.272C>T（p.Ala91Val）致病性单核苷酸多态性，该多态性提示预后不良。其中两例病例具有双CD4/CD8阳性免疫表型，尽管未发现与穿孔素蛋白表达相关。20%的肿瘤样本中p53过表达，其中80%为鼻外型，而无一例显示PRF1单核苷酸变异。这些结果表明，鼻型和鼻外型NKTCL具有不同的生物学背景，尽管这需要验证。
