Quarterly VHL Research Review - July, 2019
There have been a number of exciting recent developments in VHL research that the VHL Alliance would like to share with you:
- A study published in the journal Frontiers in Genetics examined telomere length in large VHL families, to learn more about the differences in VHL manifestations, even within VHL families.
- A study published in the journal PLoS Computational Biology explored the association between alterations in the VHL gene, their effects on the VHL protein, and how they are related to the expressed VHL manifestations.
- A study published in The Journal of Clinical Endocrinology & Metabolism looked at the positive impact that a genetic diagnosis can have on the management and outcome of patients with pheochromocytomas and/or paragangliomas.
- A study published in the journal Oncology Letters emphasized the importance of identifying carriers of VHL gene mutations to improve active surveillance of renal cell carcinoma.
- A study published in The Journal of Clinical Endocrinology & Metabolism found that "silent" genetic mutations, which presumably do not change the encoded protein, can lead to major genetic alterations, causing to VHL and hereditary pheochromocytoma.
- A clinical study from the NIH clinical protocol for VHL surveillance, published in the European Journal of Radiology, has shown a potential applicability for a new imaging technology, called 68Ga-DOTATATE PET/CT, in VHL surveillance.
To stay updated on the latest VHL-related research, check out the article by Dr. Amit Tirosh, in the upcoming quarterly VHLA Newsletter, or on Practice Update.
Pay it forward and help us learn more about VHL by participating in the
MyVHL: Patient Natural History Study at: vhl.org/MyVHL.