Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing.

ABSTRACT:

Background

Ossifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly unknown. There are a few known pathogenic abnormalities in OF, including HRPT2 mutations in conventional OF and SATB2 translocations in juvenile psammomatoid OF. On the other hand, conflicting reports exist regarding MDM2 gene amplification and chromosomal copy number alterations (CNA) in OF.

Methods

Surgically removed biopsies and curettage specimens from OF patients were obtained. Clinical, radiographic, and pathologic features of tumors were reviewed. Genomic DNA was extracted from formalin-fixed, paraffin-embedded blocks of tumor tissue. Capture-based DN

SUBMITTER: Bahceci DH 

PROVIDER: S-EPMC10513971 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature