Next‐generation sequencing of oncogenes and tumor suppressor genes in odontogenic myxomas

Santos, Jean Nunes dos; Neto, Ernesto Santos Sousa; França, Josiane Alves; Diniz, Marina Gonçalves; Moreira, Rennan Garcias; Castro, Wagner Henriques; Gomez, Ricardo Santiago; Sousa, Sílvia Ferreira de; Gomes, Carolina Cavaliéri

doi:10.1111/jop.12598

Cited by 19 publications

(18 citation statements)

References 15 publications

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“…JAK3 belongs to Janus kinase/signal transducers and activators of transcription signalling pathway, being implicated in the pathogenesis, prognosis and treatment of solid tumours 20. Mutations in this gene occur in common human cancer,20 and rs3213409 has been reported as somatic in leukaemia and recently reported by our group in odontogenic myxomas 10…”

Section: Discussionmentioning

confidence: 96%

Cancer genes mutation profiling in calcifying epithelial odontogenic tumour

et al. 2017

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AimsTo identify calcifying epithelial odontogenic tumour (CEOT) mutations in oncogenes and tumour suppressor genes.MethodsA panel of 50 genes commonly mutated in cancer was sequenced in CEOT by next-generation sequencing. Sanger sequencing was used to cover the region of the frameshift deletion identified in one sample.ResultsMissense single nucleotide variants (SNVs) with minor allele frequency (MAF) <1% were detected in PTEN, MET and JAK3. A frameshift deletion in CDKN2A occurred in association with a missense mutation in the same gene region, suggesting a second hit in the inactivation of this gene. APC, KDR, KIT, PIK3CA and TP53 missense SNVs were identified; however, these are common SNVs, showing MAF >1%.ConclusionCEOT harbours mutations in the tumour suppressor PTEN and CDKN2A and in the oncogenes JAK3 and MET. As these mutations occurred in only one case each, they are probably not driver mutations for these tumours.

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Section: Discussionmentioning

confidence: 96%

Cancer genes mutation profiling in calcifying epithelial odontogenic tumour

et al. 2017

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“…The molecular pathogenesis of odontogenic myxoma has not been established yet. We have recently used targeted next‐generation sequencing (NGS) to identify driver mutations in a cohort of odontogenic myxoma samples . However, none of the tumors harbored pathogenic mutations in the 50 most commonly mutated oncogenes and tumor suppressor genes in human cancers.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, PDGFRB mutations were reported in myofibromas and myofibromatosis . Recurrent driver events are yet to be reported in odontogenic myxoma . Considering that the odontogenic myxoma cells can show myofibroblastic differentiation and myxoid areas are eventually present in myofibroma, we raised the hypothesis whether these tumors share a common molecular profile.…”

Section: Introductionmentioning

confidence: 95%

Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

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Sousa

Carlos³

et al. 2020

J Oral Pathology Medicine

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Background The molecular pathogenesis of odontogenic myxoma has not been established yet. Considering that odontogenic myxoma may show myofibroblastic differentiation and myxoid areas can be observed in intra‐osseous myofibromas, we tested the hypothesis whether both tumors share a common molecular profile. As recent studies have reported PDGFRB recurrent driver mutations in myofibroma, we evaluated PDGFRB mutations in odontogenic myxomas. Methods A convenience sample of 15 odontogenic myxomas cases was selected. We direct sequenced PDGFRB exons 12 and 14, where p.R561C (c.1681C>T) and p.N666K (c.1998C>G) hotspot mutations have been reported among others in single and/or multiple myofibromas. Results All 15 odontogenic myxoma samples were successfully sequenced, and all 15 had wild‐type sequences for the PDGFRB mutations investigated. Conclusion Our findings suggest that PDGFRB mutations do not play a role in odontogenic myxoma pathogenesis, which might be helpful in the differential diagnosis of challenging cases.

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“…With respect to odontogenic myxoma (OM), most OM cases were diagnosed within the second to fourth decades, and demonstrated pseudomalignant growth pattern with matrix secretion (El‐Naggar et al., ). Although OM has quite different clinico‐pathologic characteristics compared to POT, no somatic mutation was detected on 50 cancer‐associated genes (Santos et al., ).…”

Section: Discussionmentioning

confidence: 99%