Recurrent G12V pathogenic mutation in adenomatoid odontogenic tumours

The adenomatoid odontogenic tumour (AOT) is a non-aggressive encapsulated tumour, being usually diagnosed in association with an unerupted permanent maxillary canine [1,2]. There are scarce reports of multiple AOTs [3–5] and a patient with Schimmelpenning syndrome (SS) with AOT was reported [6]. SS is characterized by sebaceous nevi, associated with ipsilateral abnormalities of the central nervous system, resulting from postzygotic autosomal dominant HRAS or KRAS lethal mutations that survive by somatic mosaicism [7].

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