Pseudogenes in Juvenile Nasopharyngeal Angiofibroma: First Pilot Observation

To investigate the role of Pseudogenes (PG) in juvenile nasopharyngeal angiofibroma (JNA) that were once considered to be junk-DNA or 'genomic fossils'. Five to 10 fresh JNA samples were analyzed for molecular expressions of 5 PG/respective parent genes (VEGFR1P1/VEGFR; FGFR3P1/FGFR3; PDGFAP1/PDGFA; IL6RP1/IL6R; POU5F1B/POU5F1) and clinical details correlated. IL6R, PDGFA, VEGFR2, FGF3 and their respective PG (VEGFR1P1, PDGFAP1, IL6RP1, FGFR3P1) were highly expressed but POU5F1/POU5F1B were not. The difference in expression between IL6R & IL6RP1 was substantially larger compared with other 4 pairs. While VEGFR1P1, PDGFAP1 & POU5F1B were expressed more than their respective parent genes; IL6RP1 & FGFR3P1 showed reduced expression. No clinical significance was apparent in any parameter nor was any difference noted between recurrent and upfront cases. A definite implication of pseudogene in JNA is evident in this ever first global study but future studies are needed to validate the current findings as well as further characterize its role/profile in larger sample. This may explain extreme variability of JNA, its heterogenous etiopathogenesis, evolving patterns and molecular characterization for possible targeted therapy.