Oral surgery, oral medicine, oral pathology and oral radiology · 2017
Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study.
СтатьяНазвание и аннотация: Перевод в очереди
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Siqueira Elisa Carvalho de, de Sousa Silvia Ferreira, França Josiane Alves, Diniz Marina Gonçalves, Pereira Thaís Dos Santos Fontes, Moreira Rennan Garcias, Vargas Pablo Agustin, Gomez Ricardo Santiago, Gomes Carolina Cavalieri
Аннотация
OBJECTIVE: Glandular odontogenic cyst (GOC) is an uncommon developmental cyst. Its molecular pathogenesis is unclear, and deep sequencing may help identify causative low-frequency variants in tumors. We investigated in GOC mutations in 50 genes commonly altered in human cancers.
STUDY DESIGN: Targeted next-generation sequencing was used to interrogate a panel of approximately 2800 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 single-nucleotide polymorphisms" 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 proteins, but they showed very low frequency in our samples and could not be further validated by orthogonal methods.
CONCLUSIONS: No pathogenic SNV was detected in this cohort of GOCs. Further studies with larger gene panels or whole exome sequencing are needed to find the genetic basis of GOC.
STUDY DESIGN: Targeted next-generation sequencing was used to interrogate a panel of approximately 2800 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 single-nucleotide polymorphisms" 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 proteins, but they showed very low frequency in our samples and could not be further validated by orthogonal methods.
CONCLUSIONS: No pathogenic SNV was detected in this cohort of GOCs. Further studies with larger gene panels or whole exome sequencing are needed to find the genetic basis of GOC.