Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult.

Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified RB1 pathogenic variant that confirmed retinoblastoma diagnosis in this discordant clinicopathologic presentation of the tumor.

From craniofacial resection to endonasal endoscopic removal of malignant tumors of the anterior skull base.

OBJECTIVE: To review the current literature and provide our institutional approach and opinion on the indications and limitations of traditional open craniofacial resection (CFR) and a minimally invasive pure endonasal endoscopic approach for anterior skull base tumors concentrating primarily on malignant lesions. METHODS: Based on 3 decades of experience with both open and more recently endoscopic techniques, we examined our current practice in treating tumors and other lesions involving the skull base and our current indications and limitations in the use of these techniques. We conducted a retrospective chart analysis to see which operative techniques were used for malignant tumors of the anterior skull base in the last 10 years at our institution. RESULTS: There were 30 cases identified. Traditional CFR was performed in 16, a pure endoscopic resection was performed in 9, and an endoscopic procedure combined with a frontal craniotomy was performed in 5. Gross total resection was achieved in 83.3% in the CFR group and 75% in the pure endoscopic resection group. Near-total resection was 10% in the CFR group and 33.3% in pure endoscopic resection group. Of the 5 patients who underwent a combined approach, 80% had gross total resection, and 20% had near-total resection. CONCLUSIONS: Both traditional CFR and the endonasal endoscopic approach offer advantages and disadvantages. Both approaches can achieve good results with appropriate patient selection. Numerous important factors, including location and the extent of tumor, should be taken into consideration when considering either approach. The most important determinant of outcome is the ability to achieve gross total resection with microscopic negative margins rather than the type of approach used. In the future, skull base surgeons will need to be familiar with and capable of offering both techniques to the patient.