We have detected that you are using an Ad Blocker.
PracticeUpdate is free to end users but we rely on advertising to fund our site. Please consider supporting PracticeUpdate by whitelisting us in your ad blocker.
We have sent a message to the email address you have provided, . If this email is not correct, please update your settings with your correct address.
The email address you provided during registration, , does not appear to be valid. Please update your settings with a valid address before to continue using PracticeUpdate.
Please provide your AHPRA Number to ensure that you are given the correct level of access to our site.
featured

Expert Opinion / Cases · July 30, 2019

Planning Forward—Young Man, Newly Diagnosed With Full-blown VHL and His Younger Relatives Awaiting Surveillance Planning—How Would You Proceed?

Elizabeth Lemos Silveira Lucas, MD, PhD

 

Discuss This item Follow

No comments yet, be the first to start the discussion!

  • Israel Gomy

    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.


  • Xia  Wang MD, PhD

    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.


  • Samantha Greenberg

    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.


  • Aug 15, 2020

    Pending Moderator approval.
    Delete

Further Reading