A rare case of glomus tumor of uncertain malignant potential of orbit with BRAF oncogenic mutation in a young female.

Abstract

A 21-year-old woman presented with progressive proptosis of the right eye with blurring of vision for the past 6 months. MRI showed an intra-orbital lesion that was T1 isointense, T2 hyperintense, and well enhancing on contrast. The patient underwent right frontal craniotomy, superior orbitotomy, and decompression of the lesion. Histopathology showed a glomus tumor with increased mitotic figures, consistent with a glomus tumor of uncertain malignant potential (GT-UMP). GT-UMP has an aggressive behavior that requires the need for adjuvant therapy following surgical excision. BRAF V600E mutation in these cases opens a new avenue for targeted therapy and precision medicine. This is the second reported case of a GT-UMP involving the orbit, and we have demonstrated BRAF V600E mutation in this case, which recurred in a short span, reiterating the aggressive nature of the tumor and the necessity of targeted therapy.