RESUMEN
BACKGROUND: The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour. CASE PRESENTATION: A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal. CONCLUSIONS: Our findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .
Asunto(s)
Biomarcadores de Tumor/genética , Quistes Óseos Aneurismáticos/genética , Fibroma Osificante/genética , Mutación del Sistema de Lectura , N-Metiltransferasa de Histona-Lisina/genética , Neoplasias Mandibulares/genética , Tumores Odontogénicos/genética , Quistes Óseos Aneurismáticos/diagnóstico por imagen , Quistes Óseos Aneurismáticos/patología , Quistes Óseos Aneurismáticos/cirugía , Análisis Mutacional de ADN , Fibroma Osificante/diagnóstico por imagen , Fibroma Osificante/patología , Fibroma Osificante/cirugía , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Neoplasias Mandibulares/diagnóstico por imagen , Neoplasias Mandibulares/patología , Neoplasias Mandibulares/cirugía , Tumores Odontogénicos/diagnóstico por imagen , Tumores Odontogénicos/patología , Tumores Odontogénicos/cirugía , Adulto JovenRESUMEN
Teeth exceeding the normal dental complement that have erupted into the nasal cavity are a rare pathological entity. This case report describes a female patient with recurrent complaints and fetid discharge from the left nasal cavity. The suspected clinical diagnosis of a supernumerary nasal tooth was confirmed by computed tomography. After endoscopic removal, the tooth was examined using X-ray microtomography and thin-section preparations; these findings are presented for the first time. A literature search identified 25 supernumerary nasal teeth in 23 patients.