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The patient's clinical diagnosis is VHL type 2, which is compatible with the molecular diagnosis (missense mutation).
As there is predisposition to pheochromocytoma, I would highly recommend screening the patient's sister and niece with plasma metanephrines and cathecolamines.
We follow the recommended screening protocols published on VHL Alliance web site. Based on the published data, I found the screening schedule in VHL Alliance site serves as a rather reliable guidance. I do not believe the genotype and phenotype correlation based on the types of mutations or location of the mutations carries a significant weight on screening decisions, except a few recurrent pathogenic mutations with a good volume data and evidence to suggest otherwise. As far as the follow up and treatment decisions, (i.e. observation with imaging studies, biopsy, or excision) we rely on the physicians with experiences on hemangioblastoma, renal cell carcinoma, and pancreatic neuroendocrine tumor. For opportunities of systemic therapy, we would encourage patient to participate in clinical trials if possible.
Given the patient and sister age at diagnosis, I would follow VHLA guidelines and do eye exams in the 2 year old and start pheo screening when older. Regarding follow up plan, our GI oncology team would typically follow the NET, which may be an option for follow up.
Pending Moderator approval.
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