Odontogenic myxomas lack PDGFRB mutations reported in myofibromas

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...

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Bibliographic Details
Published in:Journal of oral pathology & medicine 2020-03, Vol.49 (3), p.278-283
Main Authors: Siqueira, Elisa Carvalho, Sousa, Silvia Ferreira, Carlos, Roman, Andrade, Bruno Augusto Benevenuto, Romañach, Mário José, Gomez, Ricardo Santiago, Gomes, Carolina Cavaliéri
Format: Article
Language:English
Subjects:
Adult
Aged, 80 and over
benign tumors
Dentistry
Differential diagnosis
Exons
Female
genetics
Humans
Male
Middle Aged
Mutation
Mutation hot spots
myofibroblastic tumor
myofibroma
Myofibroma - genetics
Myxoma
Myxoma - genetics
odontogenic tumors
Odontogenic Tumors - genetics
Pathogenesis
PDGFRB
Receptor, Platelet-Derived Growth Factor beta - genetics
Tumors
Young Adult
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Summary: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.
ISSN:0904-2512
1600-0714
DOI:10.1111/jop.13004