Dr. Karel Pacak speaks at pheo symposium.
Researchers, medical practitioners, patients and their families met at Bldg. 60 recently for a 2-day symposium on pheochromocytoma and paraganglioma, two rare tumors. Pheochromocytoma and paraganglioma form on the adrenal glands or in the neck, chest, abdomen or pelvis. They can produce hormones involved in the stress response, leading to symptoms such as sweating, feelings of anxiety, palpitations and high blood pressure. Because these symptoms mimic other conditions—such as anxiety disorders—they are often difficult to diagnose. The delay in diagnosis means that many patients may go a long while without appropriate treatment.
The third annual International Patient Symposium on Pheochromocytoma was sponsored by NICHD and the Pheo Para Alliance, a group of patients, their family members and professionals with an interest in research and treatment for these conditions.
Dr. Karel Pacak, head of NICHD’s section on medical neuroendocrinology, reviewed progress in the field, including the discovery of a new biomarker in patients with certain types of the disease.
Pacak said that 18 genes that cause the tumors have been identified; he expects more will be identified in the months to come. Identifying these genes has important implications for treating the disease, he said. The genes involved influence how the tumors behave and provide important information for treatment. For example, some genes predispose patients to develop tumors on both adrenal glands and others make the tumor much more likely to metastasize, or spread.
Dr. Electron Kebebew, chief of the Endocrine Oncology Branch at NCI, explained that understanding how tumors are likely to behave is important for making decisions about how to care for patients. “Patients really need to know their condition and their options,” he said, adding that an experienced, interdisciplinary team is critical to treatment of the disease.
Pacak, a longtime pheochromocytoma researcher, also offered his vision for the future. More efficient imaging techniques and additional biomarkers are under development, he said. He stressed the need for researchers to collaborate—the key to studying a rare disease—and to speed promising treatments into testing in clinical trials.
Other speakers reviewed complementary and alternative medicine practices as supplements to conventional medicine for the side effects of chemotherapy and other treatments and for the stress involved in coping with a rare disease. Topics included a mind-body intervention to reduce stress, traditional Chinese medicine and how its framework can be applied in modern clinical practice and studies of acupuncture.