Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study

Publication date: Available online 26 July 2017
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): Elisa Carvalho de Siqueira, Silvia Ferreira de Sousa, Josiane Alves França, Marina Gonçalves Diniz, Thaís dos Santos Fontes Pereira, Rennan Garcias Moreira, Pablo Agustin Vargas, Ricardo Santiago Gomez, Carolina Cavalieri Gomes
Background: Glandular odontogenic cyst (GOC) is an uncommon developmental cyst. Its molecular pathogenesis is unclear and deep sequencing technologies may identify causative low-frequency variants in tumors. Objective: We investigated in GOC mutations in 50 genes commonly altered in human cancers Methods: Targeted next-generation sequencing was used to interrogate a panel of approximately 2,800 mutations in GOC. Results: Six missense single nucleotide variations (SNVs) were reported. Three SNVs (TP53 rs1042522, KDR rs1870377 and KIT rs3822214) are listed as “common SNPs” at the UCSC Genome Browser. The other SNVs (PIK3CA p.Glu689Lys, PIK3CA p.Ala708Thr and TP53 p.Leu289Phe) are predicted to have deleterious or damaging effects on the proteins, but they showed very low frequency in our samples and could not be further validated by orthogonal methods. Conclusion: No pathogenic SNV was detected in this cohort of GOC. Further studies with larger gene panels or whole exome sequencing are needed in order to reveal the genetic basis of GOC.



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