What are Paraganglioma/Pheochromocytoma tumors?

Paragangliomas and Pheochromocytomas are very rare neuroendocrine tumors (neuroendocrine means that they arise from cells of hormonal and nervous systems). When paragangliomas are situated in the adrenal gland they are called pheochromocytomas. They can be either benign or malignant (in an estimated 97% of cases they are benign).

30% of paragangliomas are due to hereditary gene mutations (such as SDHD, SDHA, SDHC, SDHB, VHL and RET). The SDHB mutation is most commonly associated with malignant metastasis.

6.5% to 16.5% of patients will develop a recurrence, and approximately 50% of patients with recurrent disease experience distant metastasis.The 5-year survival of metastatic disease is 30% to 65%.

There are an estimated 30 000 new cases annually (13 million people annually get cancer). There is an estimated 1 million people living with paragangliomas at any given time.

While paraganglioma and pheochromocytoma (paraganglioma located in the adrenal gland) are rare tumors, there are important similarities between these tumors and other forms of cancer. Cellular defects that cause changes in the levels of succinate in paraganglioma are also believed to cause some cases of gastrointestinal stromal tumor (GIST) as well as some kidney cancers. Interestingly, a common form of brain tumor (glioma) can be caused by a metabolic defect related to the metabolic problem in paraganglioma tumor cells.

Dr. Jim Maher from the Mayo Clinic talks about Paraganglioma in the video below: