Exploring Potential Treatment Options for Rare Cancers

AN ESTIMATED 1 IN 30,000 people receive a diagnosis of von Hippel-Lindau (VHL) disease, and 10% of them do not have a family history, according to the American Society of Clinical Oncology (ASCO).

The rare genetic disease is associated with tumors in multiple organs — including hemangioblastomas (blood vessel tumors of the brain), spinal cord tumors, endocrine (hormone gland) tumors and retinal angiomas (eye tumors) — and leads to an increased risk of developing clear cell renal cell carcinoma, a type of kidney cancer.

In this special issue of CURE®, you’ll read more about VHL disease, seeing it through the eyes of two patients. One patient first started showing symptoms in sixth grade — when he had trouble making out the words. A trip to the doctor confirmed a diagnosis of pheochromocytoma on his adrenal gland.

Ten years later, he developed more tumors on his right retina. After genetic testing, he received a diagnosis of VHL. In 2019, another patient received a
VHL diagnosis after experiencing debilitating migraines.

Both patients emphasize the importance of finding specialists who have experience treating VHL and putting together the right health care team to monitor the possibility of new tumors. Even though the disease is so uncommon, new drugs in clinical trials are targeting hypoxia, or oxygen deficiency in the tissues, and the HIF1A protein that is a master regulator of responses to hypoxia. This is important because VHL serves as an oxygen sensor, so VHL mutations cause tumors to believe they are not getting enough oxygen, prompting them to form more blood vessels that make them more resistant to cancer therapies. Therefore, a drug that targets hypoxia could work against VHL-related tumors or be effectively combined with other cancer therapies. Pioneers in this field were awarded a Nobel Prize in 2019 for this groundbreaking work.

Read more about the current research for the disease, as well as how these advances impact the patients diagnosed with it.

DEBU TRIPATHY, M.D.

EDITOR-IN-CHIEF

Professor of Medicine
Chair, Department of Breast Medical Oncology The University of Texas MD Anderson
Cancer Center