Nasopharyngeal carcinoma detected noninvasively in the real world using three gene methylation analyses from automatically processed bilateral nasal swab samples
Three methylated genes (SEPTIN9, RASSF1A, H4C6) can be detected in nasopharyngeal swabs, with RASSF1A showing the highest diagnostic accuracy (sensitivity 93 %, specificity 100 %) and representing a promising non‑invasive biomarker for nasopharyngeal carcinoma.
DNA methylation of three genes (SEPTIN9, RASSF1A, H4C6) was assessed by methylation‑specific PCR in 255 nasopharyngeal swabs from 85 untreated NPC patients, 97 treated NPC patients and 73 healthy controls. RASSF1A methylation was detected in 93 % of untreated patients and 0 % of controls, yielding a sensitivity of 93 % and a specificity of 100 %. The area under the ROC curve for RASSF1A was 0.956, the highest among the three genes. Methylation rates were markedly lower in paired plasma samples, underscoring the advantage of swab sampling. These results support the use of RASSF1A methylation as a non‑invasive diagnostic biomarker for nasopharyngeal carcinoma.
Early detection of nasopharyngeal carcinoma dramatically improves survival, yet current screening methods (EBV DNA, imaging, endoscopy) lack sensitivity, specificity or are invasive. A simple, non‑invasive swab test that accurately identifies NPC could enable population‑wide screening, reduce unnecessary biopsies, and catch disease at earlier stages.
Bizonyítékszint: Korai humán adat. Kis vagy feltáró emberi adat.
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