Possible causes include chemical, physical, or biological environmental exposures or chance errors in cell replication. Some individuals who have inherited a germline VHL mutation never develop cancer because they never get the second mutation necessary to knock out the function of the gene and start the process of tumor formation.
This can make the cancer appear to skip generations in a family, when, in reality, the mutation is present. It is also important to remember that the VHL gene is not located on the sex chromosomes. Therefore, mutations can be inherited from either the mother or the father's side of the family. The Stanford Medicine Online Second Opinion program offers you easy access to our world-class doctors.
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There are no universal guidelines regarding who should be screened for VHL. However, VHL should be suspected when a person has:. If a person has a family history of VHL, they are suspected of also having VHL if the person has any 1 symptom, such as hemangioblastoma of the brain, spine, or eye, kidney cancer, pancreatic cysts, pheochromocytoma, or endolymphatic sac tumor. Please note that this link takes you to a separate, independent website.
In general, treatment for kidney cancer is similar regardless of whether a patient has VHL. However, there is some evidence about specific VHL considerations regarding surgery. For a person with VHL and kidney cancer, surgery for a kidney tumor is generally considered when the largest tumor reaches 3 centimeters cm in size. This is generally done with enucleative resection, taking zero margins as the tumor capsule is separated from the surrounding adjaent parenchyma. Similarly, the main treatment for tumors arising in other organs is also surgery, which is done when the tumor reaches a specific size or causes symptoms.
Researchers are also actively investigating the use of systemic medications earlier in the disease stage when patients cannot have surgery. Belzutifan Welireg is a medication taken by mouth orally that targets hypoxia-inducible factor-2 alpha HIF2a. A recent study NCT included 61 people with VHL-associated tumors, mostly in the kidney, that did not need surgery right away.
In this study, Screening for new tumors or active surveillance for known tumors are both very important aspects of VHL care. If tumors are found early, there is a much better chance that treatment will be successful. There are clear recommendations on the frequency and type of screening that should be performed.
As VHL manifestations can vary, recommendations for a person's medical surveillance will change over their lifetime. These recommendations are expected to change over time as more information is made available and new technologies are developed specific to VHL. It is important to talk with your health care team about appropriate screening tests. Learn more about the screening recommendations to detect early disease manifestations on the VHL Alliance website , which is a separate organization.
If you are concerned about your risk for developing cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:. Grant Closeout. Cancer Training at NCI. Resources for Trainees. Funding for Cancer Training. Building a Diverse Workforce. National Cancer Act 50th Anniversary Commemoration. Resources for News Media. Media Contacts. Cancer Reporting Fellowships.
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