Absence of BRAFV600E mutation in odontogenic keratocysts

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Excerpt

Odontogenic keratocyst (OKC) is an odontogenic cyst, which affects mainly the posterior mandible of patients between the second and the fourth decades of life.1 Radiographically, the lesion shows a unilocular or multilocular radiolucency with well‐defined borders. Although OKC usually appears as a solitary lesion, multiple cysts are associated with the nevoid basal cell carcinoma syndrome (NBCCS). Mutations in the patched 1 (PTCH1) tumor suppressor gene are the main underlying genetic alterations reported in sporadic or NBCCS‐associated OKC.2 Moreover, mutations in other Hedgehog pathway genes, such as SMO, have been described in sporadic OKCs.3
Oncogenic mutations previously considered exclusive of malignant neoplasms have been reported in benign odontogenic tumors,4 including BRAFV600E mutation in ameloblastomas and odontogenic tumors showing cells with ameloblastic differentiation.5 Recently, work by Yook and colleagues has shown BRAFV600E mutation in a high proportion of OKCs, including those from patients with NBCCS.10 Because of the considerable rate of recurrence of OKC,11 druggable genetic mutations can be relevant in the management of patients with extensive lesions. Therefore, in this study, we used targeted next‐generation sequencing (NGS) to assess in OKC hotspot mutations in 50 oncogenes and tumor suppressor genes. This panel includes the hotspot oncogenic mutation BRAFV600E and other BRAFV600 mutations. Considering that BRAFV600E mutation has just been reported in a high proportion of OKC samples,10 we further assessed the presence of this mutation in an additional panel of microdissected OKC samples.

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