When my brother was diagnosed with a carotid body tumor in 2005, we felt as though we had collectively dodged a bullet. We were told the hard mass in his neck which we feared could be cancerous was benign, and the only lasting concern was the damage done to his vocal cords during surgery—unavoidable due to the tumor’s size and location. Years later, similar tumors were found in my mother’s neck and abdomen, yet the connection between their medical histories wasn’t obvious until she had a heart attack caused by a mass near her adrenal gland and received an ominous diagnosis: pheochromocytoma.
“The Great Mimic”
Pheochromocytomas (pheo, pheos, or PCC) and paragangliomas (para, paras, or PGL) are rare neuroendocrine tumors which form primarily along the sympathetic nervous system. Approximately 80-85% of these tumors are pheochromocytomas, and 15-20% are paragangliomas. Paras (also called extra-adrenal pheochromocytomas) form near certain blood vessels and nerves outside the adrenal gland and are most often found in the head, neck, and abdomen. Like other neuroendocrine tumors, they can be functional (hormone-secreting) or non-functional. Pheochromocytomas are found in the inner layer of the adrenal gland (referred to as the adrenal medulla).
Though pheos are notorious for the large amounts of adrenal hormones they can produce, any paraganglioma – particularly those found in the trunk of the body – can become functional, releasing potentially life-threatening bursts of epinephrine or norepinephrine. When they are functional, diagnosis is hampered by the fact that the symptoms they cause can easily be explained by other, more common, health conditions. These symptoms include:
Hypertension (high blood pressure)
A feeling of impending doom.
All in the Family
Though described in medical literature since the 1800s, pheo/para have only recently begun to lose some of the mystery and mythology which surround them. Phrases like “Rule of 10s,” the “10% Tumor” or “One and done” have been relegated to the past. A growing body of research into pheo/para has provided doctors and patients with new and badly-needed information which has, in turn, had a profound effect on the diagnosis and management of these tumors.
Some of the most important findings center around heritability, or the extent to which a disease is attributable to inherited factors. Long thought to be inherited in only ten percent of cases, pheo/para is currently referred to as “the most heritable tumor in humans.” While that might sound a little scary, our family found the identification of our mutation/syndrome to be oddly empowering --- enabling us (and our healthcare team) to fight an enemy we knew, instead of a mysterious and unpredictable foe. Those diagnosed with pheo/para should be aware that
Roughly 40% of pheos/paras arise due to inherited genetic mutations; this number increases to greater than 50% among paragangliomas which are found in the head and neck
To date, roughly 20 genetic mutations, associated with a dozen genetic syndromes, are implicated in the formation of pheo/para. These syndromes include:
Multiple Endocrine Neoplasia type 2 syndrome types A and B (MEN2A and MEN2B)
Von Hippel Lindau Syndrome
Neurofibromatosis type 1
Familial Paraganglioma Syndromes 1-5
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).
Due to the high rate of inheritance, risk of recurrence, and association with other cancers, current guidelines advise that all patients diagnosed with pheo/para be referred to a genetic counselor and be followed yearly for at least ten years after diagnosis.
Rare, but Not Alone
As the global community of pheo/para warriors has grown over the years, advocacy groups have formed to help support them, their families, and caregivers. In addition to providing a wealth of resources on pheo/para and related syndromes, they offer help in finding a doctor, provide peer-to-peer support via remote meetings, sponsor conferences and other events for patients and their families, and provide education and resources for healthcare providers. A rare diagnosis, especially one associated with tumors/cancer, can be overwhelming and a little isolating. If you’ve been diagnosed with pheo/para, there are people around the world waiting to help you navigate this journey.
The following is a partial list of pheo/para patient resources. For a more complete list, please visit the Pheo Para Project Resources page.
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MEET AIMEE POWELL
Aimee Powell's involvement with the NET cancer community has its roots in her work as a caregiver for family members diagnosed with pheochromocytoma and paraganglioma. She has worked in an administrative capacity with nonprofits since 2005, and as a professional communicator for over twenty-five years. After her brother's death from malignant paraganglioma, she dedicated herself to raising awareness of para/pheo, and to assisting patients with these rare tumors. Aimee is the founder of the Pheo Para Project, past Executive Director of the Pheo Para Alliance, and currently sits on the board of directors for the SDH-Deficient Cancer Research Advocates. Aimee is also a LACNETS NETCONNECT mentor. She lives in the Greater Los Angeles area.