Patients are adults or children of any age with known, sporadic or familial PHEO/PGL, on the basis of one or more of the following:
- High levels of blood or urinary catecholamines, metanephrines, methoxytyramine or chromogranin A.
- Highly suspected presence of PHEO/PGL based on imaging studies, even with normal biochemistry.
- Personal or family history of PHEO/PGL or genetic mutations known to predispose individuals to develop PHEO/PGL.
- Patients can be studied to provide blood/urine samples for biochemical, proteomic, and/or genetic and epigenetic analysis.
- Signed informed consent is required.
- Patients must be willing to return to NIH for follow-up evaluation.
- Patients must have an outside general practitioner or endocrinologist. Patients with metastatic disease must also have an outside oncologist.
- Patients with PHEO/PGL will be accepted through clinician or self- referrals.
Potential patients will be excluded on the basis of one or more of the following:
- Pregnant (based on a pregnancy test done either outside the NIH or at the NIH) or breastfeeding women
- Severe cardiac dysfunction
Currently on dialysis
-A pregnancy test is performed in women of childbearing age (up to age 55). If after enrollment to this protocol, a patient is found to have a positive pregnancy test, her participation in this protocol will be terminated.
-Research scans are contraindicated in patients with proven myelodysplastic syndrome.
- Patients who are not willing to return to the NIH (e.g., after surgery or an initial evaluation) for more than 2 years may be removed from the protocol.
If the patient is eligible for a surgery and chooses to receive a surgical intervention at a place outside of the NIH, his/her decision may affect future participation in the study. We also understand that due to extenuating circumstances the patient may need to pursue the surgery somewhere else. Under those circumstances, our team will provide a list of necessary criteria for continued follow-up (i.e. tissue transfer, follow-up tests, etc.).
--The patient will need to inform the research team ahead of time about the surgeon and institution that will be performing the surgery, so that the team can aid in facilitating the appropriate arrangements for tissue transfer.
--The patient will need to consult with the outside surgeon to develop a plan for sending a sample of tumor tissue to the NIH research team. If the surgeon is not consulted or the sample is not transferred, we may inform participants that their enrollment in the study may no longer be scientifically appropriately. In this case, the research team will work with the participant to develop a plan to obtain medical records to facilitate transfer of care in patient s preferred facility.
- Pregnant and breastfeeding women will not be included in the protocol because their participation as a demographic is not essential to this study. The information we are seeking can be acquired from a cohort of non-pregnant patients. The exclusion of pregnant women does not preclude these patients from receiving appropriate care and management from an outside facility.
Specific Eligibility Criteria for Imaging Studies Within Our Protocol
-In adult patients:
Imaging studies are not done in patients that have the following exclusion criteria:
- Pregnant and breastfeeding women,
- Patients with a body weight of greater than or equal to 400 pounds due to weight limitations of PET/CT/MRI scanners or patients who are not able to enter the bore of PET/CT/MRI scanners due to BMI,
Inability to lie still for the entire imaging time (e.g. cough, severe arthritis, etc.),
---Inability to complete the needed investigational and standard-of-care imaging examinations due to other reasons (severe claustrophobia, radiation phobia, etc.),
---Any additional medical conditions, serious illness, or other extenuating circumstance that, in the opinion of the Principal Investigator, may significantly interfere with study compliance.
---Additionally, DCE-MRI is not done in patients with acute or chronic renal insufficiency since gadolinium chelate injection is contraindicated in those patients. In patients where DCE-MRI is considered, a creatinine clearance measurement is performed as a clinically indicated test by the Department of Laboratory Medicine at the NIH Clinical Center. Patients with impaired kidney function will not undergo DCE-MRI. DCE-MRI is also not done in patients with severe claustrophobia or who have iron or metal in the MRI scan site, in patients with pacemakers or defibrillators, or in patients with an allergy to gadolinium. Very rarely, gadolinium at the site of injection or the dosed limb can cause skin and soft tissue necrosis, thrombosis, fasciitis, and compartment syndrome requiring surgical intervention.
-In pediatric patients:
--Inclusion criteria for research PET imaging in children
- Children over 10 years old with very high suspicion of sporadic or familial pheochromocytoma/paraganglioma (e.g. the presence of new onset of hypertension or hypertensive episodes, sweating, headaches, pallor, palpitations, drug resistant hypertension, etc.) family history of pheochromocytoma/paraganglioma or genetic mutations known to predispose individuals to develop these tumors, or the presence of a tumor on conventional imaging /ultrasounds, CT, MRI.
- Children must give written informed assent and be willing to return to the NIH for follow-up.
Female patients of childbearing age must have a negative pregnancy test on the day of the enrollment into this protocol and within 24 hours of any treatment or test involving radioactivity or radiation exposure. They should be abstinent or use appropriate contraception while taking part in the study, which involves radiation.
--Exclusion criteria for research PET imaging in children
- Children of less than 10 years of age,
- Children with impaired mental capacity that precludes informed assent,
- Pregnant or breastfeeding female adolescents,
- Inability to lie still for the entire imaging time (e.g. cough, turbulent children, severe claustrophobia, etc.).