Pseudogenes in Juvenile Nasopharyngeal Angiofibroma: First Pilot Observation.
Angiofibroma
Nasopharynx
Pseudogenes
Journal
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
ISSN: 2231-3796
Titre abrégé: Indian J Otolaryngol Head Neck Surg
Pays: India
ID NLM: 9422551
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
04
11
2020
accepted:
14
12
2020
entrez:
1
12
2022
pubmed:
2
12
2022
medline:
2
12
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36452697
doi: 10.1007/s12070-020-02336-4
pii: 2336
pmc: PMC9702465
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1237-1241Informations de copyright
© Association of Otolaryngologists of India 2021.
Déclaration de conflit d'intérêts
Conflict of interestThe authors declare that they have no conflict of interest.
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