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  • Title: Endolymphatic Sac Tumors Associated With von Hippel-Lindau: A Case Report Highlighting Opportunity for Novel Orphan Drug Therapy.
    Author: Tan D, Fujiwara RJT, Tan C, Isaacson B, Hunter JB.
    Journal: Otol Neurotol; 2024 Oct 01; 45(9):e644-e646. PubMed ID: 39165133.
    Abstract:
    OBJECTIVE: To discuss the potential benefit of belzutifan therapy in a patient with von Hippel-Lindau (VHL) disease-associated endolymphatic sac tumor (ELST). PATIENTS: Case report. INTERVENTIONS: Clinical details of a patient with residual ELST after hearing preservation surgery who initiated belzutifan therapy postoperatively for concurrent renal cell carcinoma, as well as literature review of belzutifan and ELST. MAIN OUTCOME MEASURES: The patient remained without radiologic evidence of growth of her residual tumor at 17 months post-initiation of belzutifan. It is unknown whether this represents therapeutic drug effect, nonviability of residual tumor, or slow tumor growth not captured radiographically within the duration of follow-up. CONCLUSIONS: Belzutifan could have direct therapeutic benefit in patients with VHL-associated ELST.
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